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

About this overview [Show]

39 public entries
entries per page

Path. Hide Path. column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending

Type Hide Type column Descending
Ascending

Mutation effect Hide Mutation effect column Descending
Ascending

Protein Hide Protein column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Patient ID Hide Patient ID column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

Ethnic origin Hide Ethnic origin column Descending
Ascending
+/+ 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.1080+1G>T
- Substitution Splice site - - - P3H1_00001 AN_005819 OI VIII Belgium:Ghent DNA PCR, SEQ The proband's OI diagnosed sister also harbours the same homozygous mutation. Palestinian
+/+ 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. -
1 - 39

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