The symbol and name for this gene were previously LEPRE1 and leucine proline-enriched proteoglycan (leprecan) 1. These changes were made in December 2014.
LOVD - Variant listings for P3H1

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+/+ 01 c.9dupA
    + c.9dupA
- Duplication Frameshift p.(Arg4Thrfs*33) - - P3H1_00037 No. 302 OI II Caparros-Martin et al., 2016 DNA PCR, SEQ The variant is incorrectly described as being in the LEPRE1 gene. Egyptian
+/+ 01 c.26T>C - Substitution Missense p.Lys9Pro - - P3H1_00041 OI 10 OI IV Mohd Nawawi et al., 2018 DNA CGP P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype. Malaysian
+/+ 01 c.95_99delinsA
    + c.1080+1G>T
- Insertion/Deletion Frameshift p.(Met32Lysfs*24) - - LEPRE1_00045 31 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 01 c.105_120del
    + c.2164C>T
- Deletion Frameshift p.(Asp36Argfs*16) - - P3H1_00035 OI VIII Huang et al., 2017 DNA CNGP, PCR, SEQ - Chinese
+/+ 01 c.138C>A
    + c.138C>A
- Substitution Nonsense c.(Tyr46*) - - LEPRE1_00055 Individual V15 OI III Rauch et al., 2014 DNA mPCR, SEQ - -
+/+ 01 c.232delC
    + c.232delC
- Deletion Frameshift p.(Gln78Serfs*30) - - P3H1_00005 Proband 4 OI III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ - Irish Traveller
+/+ 01 c.232delC
    + c.232delC
- Deletion Frameshift p.(Gln78Serfs*30) - - P3H1_00005 Proband 5 OI II Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ - Irish Traveller
+/+ 01 c.232delC
    + c.232delC
- Deletion Frameshift p.(Gln78Serfs*30) - - P3H1_00005 Proband 6 OI II/III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ - Irish Traveller
+/+ 01 c.232delC
    + c.1914+1G>A
- Deletion Frameshift p.(Gln78Serfs*30) - - P3H1_00005 30 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - -
+/+ 01 c.392C>A
    + c.392C>A
- Substitution Nonsense p.(Ser131*) - - P3H1_00006 Proband 7 OI II Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 1 by Pepin et al., 2013. Native American
+/+ 01 c.401_402del
    + c.401_402del
- Deletion Frameshift p.(Glu134Glyfs*41) - - LEPRE1_00026 VI:1 & VI:3 OI III van Dijk et al., 2010 DNA PCR, SEQ The parents are first cousins. Turkish
+/+ 01 c.428G>C - Substitution Missense p.(Arg143Pro) - - P3H1_00040 OI VIII Popkov, 2018 DNA CNEP Variant details were supplied by the author. It is not clear if the patient is homozygous for the variant, or is heterozygous and harbours some other variant in addition. -
+/+ 01 c.439_441del
    + c.439_441del
- Deletion In-frame deletion p.(Asn147del) - - LEPRE1_00037 2 OI Pepin et al., 2013, United States:Seattle DNA SEQ - Somali
+/+ 02 c.484del
    + c.2155dupC
- Deletion Frameshift p.(Ala162Leufs*22) - - LEPRE1_00031 OI III Takagi et al., 2012 DNA PCR, SEQ - -
+/+ 02 c.570_571del
    + c.570_571del
- Deletion Frameshift p.(Gly191Serfs*10) - - LEPRE1_00038 3 OI Pepin et al., 2013, United States:Seattle DNA SEQ - Arabic
+/+ 02i c.618+1G>A
    + c.1080+1G>T
- Substitution Splice site - - - LEPRE1_00046 32 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 03 c.628C>T
    + c.628C>T
- Substitution Nonsense p.(Arg210*) - - P3H1_00015 Proband 2-1 OI II/III Willaert et al., 2008 DNA PCR, SEQ The sister (Proband 2-2) of this male proband is also homozygous for the same mutation. Turkish
+/+ 03 c.747delC
    + c.1080+1G>T
- Deletion Frameshift p.(Tyr250Metfs*87) - NlaIV - P3H1_00003 Proband 4 OI II Cabral et al., 2007 DNA PCR, SEQ The patient has also been described as Proband 8 by Chang et al., 2010. African American (M) & Virgin Islands (P)
+/+ 03 c.765C>A
    + c.1080+1G>T
- Substitution Nonsense p.(Tyr255*) - - P3H1_00009 Proband 15 OI II Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 33 by Pepin et al., 2013 though the Proband number is mis-identified as 5, rather than as 15. African American
+/+ 03 c.765C>A
    + c.1080+1G>T
- Substitution Nonsense p.(Tyr255*) - - P3H1_00009 34 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 04 c.838C>T
    + c.1080+1G>T
- Substitution Nonsense p.(Gln280*) - - LEPRE1_00036 OI VIII Moul et al., 2013 DNA SEQ The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by Pepin et al., 2013. African-Colombian African-American
+/+ 04 c.927delT
    + c.927delT
- Deletion Frameshift p.(Phe309Leufs*28) - - LEPRE1_00035 AN_002111 Bruck syndrome type 3 Caparrós-Martin et al., 2013, Spain:Madrid DNA SEQ Family 2, patient 2. The patient's younger sister (AN_002112) also harbours the same variants. Spanish
+/+ 04 c.933C>G
    + c.933C>G
- Substitution Nonsense p.(Tyr311*) - - P3H1_00007 Proband 8 OI III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ - Arabic
?/- 05 c.1045G>A dbSNP Substitution Missense p.(Gly349Arg) - - P3H1_00025 - - dbSNP Unknown Unknown - -
+?/-? 05 c.1045G>A dbSNP Substitution Missense p.(Gly349Arg) - - P3H1_00025 AN_002351 OI China:Jinan DNA PCR, SEQ It is improbable that this is the disease-causing variant as this variant is too frequent in most populations to be associated with OI. -
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 1 OI II Cabral et al., 2007 DNA PCR, SEQ - Ghanaian
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 2 OI II/III Cabral et al., 2007 DNA PCR, SEQ The proband's sibling (2-2, terminated at 19 weeks) is described as Proband 7 by Chang et al., 2010. African American
+/+ 05i c.1080+1G>T
    + c.1473+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 3 OI III Cabral et al., 2007 DNA PCR, SEQ - Nigerian
+/+ 05i c.1080+1G>T
    + c.747delC
- Substitution Splice site - - BslI + P3H1_00001 Proband 4 OI II Cabral et al., 2007 DNA PCR, SEQ The patient has also been described as Proband 8 by Chang et al., 2010. African American (M) & Virgin Islands (P)
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 11 OI II/III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 5 by Pepin et al., 2013. African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 12 OI II/III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 6 by Pepin et al., 2013. African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 13 OI II Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 14 OI II/III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 13 by Pepin et al., 2013. African American
+/+ 05i c.1080+1G>T
    + c.765C>A
- Substitution Splice site - - BslI + P3H1_00001 Proband 15 OI II Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 33 by Pepin et al., 2013 though the Proband number is mis-identified as 5, rather than as 15. African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 D1 OI II Bodian et al., 2009, United States:Seattle DNA PCR, SEQ - African American?
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 D3 OI II Bodian et al., 2009, United States:Seattle DNA PCR, SEQ - African American?
+/? 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Family 46 OI II Pyott et al., 2011, United States:Seattle DNA PCR, SEQ - -
+/+ 05i c.1080+1G>T
    + c.838C>T
- Substitution Splice site - - BslI + P3H1_00001 OI VIII Moul et al., 2013 DNA SEQ The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by Pepin et al., 2013. African-Colombian African-American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 4 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 7 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 8 OI Pepin et al., 2013 DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 9 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 10 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 11 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African Haitian
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 12 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 14 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 15 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.95_99delinsA
- Substitution Splice site - - BslI + P3H1_00001 31 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.618+1G>A
- Substitution Splice site - - BslI + P3H1_00001 32 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.765C>A
- Substitution Splice site - - BslI + P3H1_00001 34 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1170+5G>C
- Substitution Splice site - - BslI + P3H1_00001 36 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1554_1555del
- Substitution Splice site - - BslI + P3H1_00001 37 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - -
+/+ 05i c.1080+1G>T
    + c.1720+5G>A
- Substitution Splice site - - BslI + P3H1_00001 38 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1881_1882del
- Substitution Splice site - - BslI + P3H1_00001 39 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - Asian Indian
+/+ 05i c.1080+1G>T
    + c.1996delA
- Substitution Splice site - - BslI + P3H1_00001 40 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.2148_2149delinsA
- Substitution Splice site - - BslI + P3H1_00001 41 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Individual T16 OI VIII Rauch et al., 2014 DNA mPCR, SEQ - -
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 P1 OI III Barbirato et al., 2015 DNA PCR, SEQ, SSCA The proband is the son of cousin parents whose DNA was not available for testing. -
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 4 OI VIII Fratzl-Zelman et al., 2016 DNA PCR, SEQ - African American
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 5 OI VIII Fratzl-Zelman et al., 2016 DNA PCR, SEQ - Ghanaian
+/+ 05i c.1080+1G>T
    + c.1080+1G>T
- Substitution Splice site - - BslI + P3H1_00001 Proband 6 OI VIII Fratzl-Zelman et al., 2016 DNA PCR, SEQ The proband died at 3 weeks of age. Ghanaian
+/+ 05i c.1080+1G>T
    + c.1948G>C
- Substitution Splice site - - BslI + P3H1_00001 AN_006102 OI VIII United States:Houston DNA CNGP Diagnosed prenatally via U/S with OI. 5 fractures at age 21 months: bilateral femur fractures at least twice, bilateral ulnae, bilateral humerus, and a questionable skull fracture. Currently, at age 14, is ambulatory and plays sports. African American
+/+ 05i c.1080+1G>T
    + c.1646T>G
- Substitution Splice site - - BslI + P3H1_00001 OI VIII Santana et al., 2018 DNA SEQ The phenotype is described as being moderately severe. -
+/+? 06 c.1087A>G - Substitution Missense p.(Lys363Glu) - - P3H1_00026 P2 OI III Barbirato et al., 2015 DNA PCR, SEQ, SSCA The parents of the proband are reported not to be consanguineous. Only one P3H1 variant was detected in the proband in spite of all exons of P3H1 being sequenced. -
+/+ 06 c.1102C>T
    + c.2055+18G>A
- Substitution Nonsense p.(Arg368*) - - P3H1_00016 Proband 3 OI II/III Willaert et al., 2008 DNA PCR, SEQ - Belgian
+/+ 06 c.1120G>T
    + c.1120G>T
- Substitution Nonsense p.(Glu374*) - - LEPRE1_00039 16 OI Pepin et al., 2013, United States:Seattle DNA SEQ - Hispanic
+/+ 06 c.1120G>T
    + c.1300G>T
- Substitution Nonsense p.(Glu374*) - - LEPRE1_00039 42 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - Italian
+/+ 06 c.1170G>A
    + c.1459C>T
- Substitution Splice site - - - LEPRE1_00052 43 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ The variant at cDNA position 1170 in this patient, although predicted to be synonymous, has an effect on mRNA splicing, -
+/+ 06i c.1170+2T>A
    + c.1170+2T>A
- Substitution Splice site - - - P3H1_00012 Proband 18 OI III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 17 by Pepin et al., 2013. First Nation Canadian
+/+ 06i c.1170+5G>C
    + c.1170+5G>C
- Substitution Splice site - - - P3H1_00013 Proband 19 OI II Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 20 by Pepin et al., 2013. Vietnamese
+/+ 06i c.1170+5G>C
    + c.1170+5G>C
- Substitution Splice site - - - P3H1_00013 18 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - Vietnamese
+/+ 06i c.1170+5G>C
    + c.1170+5G>C
- Substitution Splice site - - - P3H1_00013 19 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - Vietnamese
+/+ 06i c.1170+5G>C
    + c.1080+1G>T
- Substitution Splice site - - - P3H1_00013 36 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
+/+ 07 c.1223+2T>G
    + c.1223+2T>G
- Substitution Splice site - - - LEPRE1_00034 AN_002110 OI III Caparrós-Martin et al., 2013, Spain:Madrid DNA SEQ Family 1 Egyptian
+/+ 08 c.1244dup
    + c.1914+1G>A
- Duplication Frameshift p.(Arg416Thrfs*40) - - LEPRE1_00054 44 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - -
+/+ 08 c.1300G>T
    + c.1120G>T
- Substitution Nonsense p.(Glu434*) - - LEPRE1_00051 42 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - Italian
+/+ 08 c.1345G>A
    + c.1345G>A
- Substitution Missense p.(Gly449Ser) - - LEPRE1_00040 21 OI Pepin et al., 2013, United States:Seattle DNA SEQ - Lebanese
+/+ 08 c.1345G>C
    + c.1345G>C
- Substitution Missense p.(Gly449Arg) - - LEPRE1_00041 22 OI Pepin et al., 2013, United States:Seattle DNA SEQ - Finnish
+/+ 09 c.1346-340_1473+36del
    + c.1346-340_1473+36del
- Deletion Frameshift - - - P3H1_00011 Proband 17 OI II/III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 23 by Pepin et al., 2013. French Canadian
+/+ 09 c.1346-340_1473+36del
    + c.1346-340_1473+36del
- Deletion Frameshift - - - P3H1_00011 Proband 3 OI VIII Fratzl-Zelman et al., 2016 DNA PCR, SEQ - Caucasian
+/+ 09 c.1365_1366delinsC
    + c.1365_1366delinsC
- Insertion/Deletion Frameshift p.(Glu455Aspfs*7) - - P3H1_00014 Proband 1 OI II/III Willaert et al., 2008 DNA PCR, SEQ - Lebanese
+/+ 09 c.1383_1389dup
    + c.1383_1389dup
- Duplication Frameshift p.(Lys464Glufs*19) - Hpy188I + P3H1_00010 Proband 16 OI III Baldridge et al., 2008, United States:Seattle DNA PCR, SEQ This patient was subsequently presented as patient 24 by Pepin et al., 2013. Asian Indian
+/+ 09 c.1383_1389dup
    + c.1924_1934del
- Duplication Frameshift p.(Lys464Glufs*19) - Hpy188I + P3H1_00010 Proband 5 OI VIII Chang et al., 2010 DNA, RNA PCR, RT-PCR, SEQ This patient was subsequently described as Proband 2 by Fratzl-Zelman et al., 2016. Pakistani
+/+ 09 c.1459C>T
    + c.1170G>A
- Substitution Nonsense p.(Gln487*) - - LEPRE1_00053 43 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ The variant at cDNA position 1170 in this patient, although predicted to be synonymous, has an effect on mRNA splicing, -
+/+ 09 c.1466T>C
    + c.1915-1G>A
- Substitution Missense p.(Leu489Pro) - - LEPRE1_00027 Proband 1 OI III Zhang et al., 2011 DNA PCR, SEQ - Han Chinese
+/+ 09i c.1473+1G>T
    + c.1080+1G>T
- Substitution Splice site - - MseI + P3H1_00002 Proband 3 OI III Cabral et al., 2007 DNA PCR, SEQ - Nigerian
+/+ 09i c.1473+3A>C
    + c.1675dupC
- Substitution Splice site - - - LEPRE1_00029 Proband 2 OI III Zhang et al., 2011 DNA PCR, SEQ - Han Chinese
-?/-? 10 c.1501C>T - Substitution Missense p.(Arg501Trp) - - P3H1_00029 - Barbirato et al., 2015 DNA PCR, SEQ, SSCA This variant has been found in OI patients and in normal controls. -
?/- 10 c.1517C>G dbSNP Substitution Missense p.(Pro506Arg) - - P3H1_00024 - - dbSNP Unknown Unknown - -
+/+ 10 c.1554_1555del
    + c.1080+1G>T
- Deletion Frameshift :p.(Phe519Glnfs*63) - - LEPRE1_00047 37 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - -
+/+ 11 c.1646T>G
    + c.1080+1G>T
- Substitution Missense p.(Met549Arg) - - P3H1_00039 OI VIII Santana et al., 2018 DNA SEQ The phenotype is described as being moderately severe. -
?/- 11 c.1647G>A dbSNP Substitution Missense p.(Met549Ile) - - P3H1_00023 - - dbSNP Unknown Unknown - -
-?/-? 11 c.1647G>A - Substitution Missense p.(Met549Ile) - - P3H1_00030 - Barbirato et al., 2015 DNA PCR, SEQ, SSCA This variant has been found in OI patients and in normal controls. -
+/+ 11 c.1656C>A
    + c.1656C>A
- Substitution Nonsense p.(Tyr552*) - Tsp509I + P3H1_00004 Proband 5 OI III Cabral et al., 2007 DNA PCR, SEQ This patient has also been described as Proband 10 by Baldridge et al., 2008 and the mutation confirmed. The patient has also been described as Proband 6 by Chang et al., 2010, as patient 25 by Pepin et al., 2013 and as Proband 1 by Fratzl-Zelman et al., 2016. Pakistani
+/+ 11 c.1675dupC
    + c.1473+3A>C
- Duplication Frameshift p.(Leu559Profs*24) - - LEPRE1_00030 Proband 2 OI III Zhang et al., 2011 DNA PCR, SEQ - Han Chinese
?/- 11 c.1716C>T dbSNP Substitution Silent p.(=) - - P3H1_00022 - - dbSNP Unknown Unknown - -
+/+ 11i c.1720+5G>A
    + c.1080+1G>T
- Substitution Splice site - - - LEPRE1_00048 38 OI Pepin et al., 2013, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - African American
-/- 11i c.1720+52C>T
    + c.1812C>T
- Substitution Other - - - P3H1_00028 P4 OI I - DNA PCR, SEQ, SSCA The proband's mother also has OI type I but she does not carru either of the proband's variants. -
?/- 12 c.1812C>T dbSNP Substitution Silent p.(Pro604=) - - P3H1_00021 - - dbSNP Unknown Unknown - -
-/- 12 c.1812C>T
    + c.1720+52C>T
dbSNP Substitution Silent p.(Pro604=) - - P3H1_00021 P4 OI I - DNA PCR, SEQ, SSCA The proband's mother also has OI type I but she does not carru either of the proband's variants. -
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Legend: [ P3H1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. P3H1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient