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LOVD - Variant listings for FKBP10

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+/+ 01 c.14delG
    + c.14delG
- Substitution Frameshift p.(Gly5Alafs*154) - - FKBP10_00020 Family O Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - -
+/+ 01 c.21dupC
    + c.21dupC
- Duplication Frameshift p.(Ser8Glnfs*67) - - FKBP10_00015 AN_002115 OI III Caparrós-Martin et al., 2013, Spain:Madrid DNA SEQ Family 5 Egyptian
+/+ 01 c.21dupC
    + c.21dupC
- Duplication Frameshift p.(Ser8Glnfs*67) - - FKBP10_00106 P.27 OI XI Trancozo et al., 2019 DNA SEQ - Brazilian
+/+ 01 c.122_156del
    + c.122_156del
- Deletion Frameshift p.(Leu41Glnfs*22) - - FKBP10_00007 Case 2 Bruck syndrome type 3 Kelley et al., 2011 DNA PCR, SEQ The parents are consanguineous. Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 (Bank et al., 1999), whereas FKBP10 maps to 17q21.2. Punjabi
+/+ 01 c.179A>C
    + c.1063+2T>C
- Substitution Missense p.(Gln60Pro) - - FKBP10_00107 P.28 OI XI Trancozo et al., 2019 DNA SEQ - Brazilian
+/+ 01 c.204delinsAAA
    + c.204delinsAAA
- Insertion/Deletion Frameshift p.(His68Glnfs*92) - - FKBP10_00028 Bruck syndrome type 3 Moravej et al., 2015 DNA PCR, SEQ The parents of the proband are first cousins. Iranian
+/+ 02 c.288dupG
    + c.288dupG
- Duplication Frameshift p.(Arg97Alafs*101) - - FKBP10_00021 Family P Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - East Africa/Somalia
+/+ 02 c.310C>T
    + c.310C>T
- Substitution Nonsense p.(Arg104*) - - FKBP10_00037 No. 1004 Bruck syndrome type 3 Caparros-Martin et al., 2016 DNA PCR, SEQ - Egyptian
+/+ 02 c.321_353del
    + c.321_353del
- Deletion In-frame deletion p.(Met107_Leu117del) - - FKBP10_00001 R06-113A OI Alanay et al., 2010, United States:Seattle DNA PCR, SEQ There is a founder effect for this variant which was detected in the five Turkish families described in the paper. The variant is mistakenly described at the protein level as p.Gly107_Leu117del. Turkish
+/+ 02 c.337G>A
    + c.337G>A
- Substitution Missense p.(Glu113Lys) - - FKBP10_00022 Family Q Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - -
+/+ 02 c.337G>A
    + c.337G>A
- Substitution Missense p.(Glu113Lys) - - FKBP10_00022 Family R Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ This patient was previously described by McPherson and Clemens 1997. -
+/+ 02 c.343C>T
    + c.1086delC
- Substitution Nonsense p.(Arg115*) - - FKBP10_00033 Family 1 OI III Xu et al., 2017 DNA CNGP, PCR, SEQ The protein-level variant description for the paternal allele is incorrectly described by the authors as p.A362fsX1. The family in this study was presented again as Family 30 by Liu et al., 2017 with a phenotype of OI III. Han Chinese
+/+? 02 c.344G>A
    + c.831dupC
- Substitution Missense p.(Arg115Gln) - - FKBP10_00009 Case 6 Bruck syndrome type 3 Kelley et al., 2011 DNA PCR, SEQ No supporting evidence is presented that the misense p.(Arg115Gln) variant is disease-causing. Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 (Bank et al., 1999), whereas FKBP10 maps to 17q21.2. Caucasian
+/+ 02 c.344G>A
    + c.344G>A
- Substitution Missense p.(Arg115Gln) - - FKBP10_00009 Family K Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ The three affected individuals in this family have been described previously by Breslau-Siderius et al., 1998 and Bank et al., 1999. Kurdish
+/+ 02 c.344G>A
    + c.344G>A
- Substitution Missense p.(Arg115Gln) - - FKBP10_00009 Family B OI Umair et al., 2016 DNA PCR, SEQ - Pakistani
+/+ 02i c.391+4A>T
    + c.391+4A>T
- Substitution Splice site - - - FKBP10_00031 AN_005833 OI XI Essawi et al., 2018, Belgium:Ghent DNA, RNA, Protein PCR, RT-PCR, SEQ, Western This variant was identified in 8 affected members of the same family. The variant causes a skip of exon 2. This patient might be related to patient AN_005834 who is homozygous for the same variant and is also from the same city. Palestinian
+/+ 02i c.391+4A>T
    + c.391+4A>T
- Substitution Splice site - - - FKBP10_00031 AN_005834 OI XI Essawi et al., 2018, Belgium:Ghent DNA PCR, SEQ This patient might be related to patient AN_005833 who is homozygous for the same variant and is also from the same city. Palestinian
+/+ 03 c.407C>T
    + c.407C>T
- Substitution Missense p.(Pro136Leu) - - FKBP10_00023 Family S Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - -
?/- 04 c.590A>G dbSNP Substitution Missense p.(Lys197Arg) - - FKBP10_00003 - - dbSNP Unknown Unknown - -
+/+ 04 c.600_604del
    + c.600_604del
- Deletion Frameshift p.(Tyr201Hisfs*58) - - FKBP10_00012 Bruck syndrome type 3 Setijowati et al., 2011 DNA PCR, SEQ The parents of the patient are second cousins. Indonesian
+/+ 04 c.612C>G
    + c.612C>G
- Substitution Nonsense p.(Tyr204*) - - FKBP10_00038 OI XI Velasco and Morales, 2017 DNA PCR, SEQ, WES The parents are first cousins. The authors also report that their patient has a type III OI phenotype. Colombian
+/+ 04 c.689T>C
    + c.689T>C
- Substitution Missense p.(Ile230Thr) - - FKBP10_00016 AN_002116 OI III Caparrós-Martin et al., 2013, Spain:Madrid DNA SEQ Family 6 Lebanese
?/- 05 c.732A>G dbSNP Substitution Silent p.(=) - - FKBP10_00004 - - dbSNP Unknown Unknown - -
+/+ 05 c.743dupC
    + c.743dupC
- Duplication Frameshift p.(Gln249Thrfs*12) - - FKBP10_00010 Family 1 Bruck syndrome type 3 Shaheen et al., 2011 DNA PCR, SEQ The parents are consanguineous and there is phenotypic variability between the proband and her older sister as well as with affected cousins. This patient's family has the ID OI_F1 (Shaheen et al., 2012). Saudi Arabian
+/+ 05 c.743dupC
    + c.743dupC
- Duplication Frameshift p.(Gln249Thrfs*12) - - FKBP10_00010 Family M OI III Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ Both affected individuals in this family are described as having OI III rather than Bruck syndrome. -
+/+ 05 c.764_772dup
    + c.1405G>T
- Duplication Duplication p.(His255_Leu257dup) - - FKBP10_00026 Family 1 Bruck syndrome type 1 Zhou et al., 2014 DNA PCR, SEQ - Chinese
+/+ 05 c.813_814del
    + c.831delC
- Deletion Frameshift p.(Glu271Aspfs*101) - - FKBP10_00040 Family 3 OI Zhang et al., 2018 DNA SEQ - Chinese
+/+ 05 c.831delC
    + c.813_814del
- Deletion Frameshift p.(Gly278Alafs*20) - - FKBP10_00039 Family 3 OI Zhang et al., 2018 DNA SEQ - Chinese
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 R93-188A OI Alanay et al., 2010, United States:Seattle DNA PCR, SEQ The variant is mistakenly described as c.831_832insC and the frameshift as p.Gly278ArgfsX295 in the paper. Turkish
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Case 1 Bruck syndrome type 3 Kelley et al., 2011 DNA PCR, SEQ The parents are first cousins. Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 (Bank et al., 1999), whereas FKBP10 maps to 17q21.2. Turkish
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Case 3 Bruck syndrome type 3 Kelley et al., 2011 DNA PCR, SEQ The parents are consanguineous. There is variable expressivity in the family: the elder sister (Case 4) has a phenotype more consistent with type III OI. The clinical histories of cases 3 and 4 have been reported previously by Mokete et al., 2005. Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 (Bank et al., 1999), whereas FKBP10 maps to 17q21.2. South African Venda
+/+ 05 c.831dupC
    + c.1276dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Case 5 Bruck syndrome type 3 Kelley et al., 2011 DNA PCR, SEQ The clinical history of the patient has been described twice before by Viljoen et al., 1989 and by Mokete et al., 2005. Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 (Bank et al., 1999), whereas FKBP10 maps to 17q21.2. South African
+/+ 05 c.831dupC
    + c.344G>A
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Case 6 Bruck syndrome type 3 Kelley et al., 2011 DNA PCR, SEQ No supporting evidence is presented that the misense p.(Arg115Gln) variant is disease-causing. Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 (Bank et al., 1999), whereas FKBP10 maps to 17q21.2. Caucasian
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Family 2 Bruck syndrome type 3 Shaheen et al., 2011 DNA PCR, SEQ The parents are first cousins with three noenatal deaths with frcatures and presumed diagnosis of OI. Saudi Arabian
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 AN_002117 Bruck syndrome type 3 Caparrós-Martin et al., 2013, Spain:Madrid DNA SEQ Family 7, proband. The proband's older sister (AN_002118) has the phenotype of type III OI. Sudanese
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Family N Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR - -
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Family U OI IV Schwarze et al., 2013 DNA PCR, SEQ - -
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Family T Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - -
+/+ 05 c.831dupC
    + c.948dupT
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Family C Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan/European
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Family C OI Umair et al., 2016 DNA PCR, SEQ Affected members of the family are descibed as having "severe progressive OI". Pakistani
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Bruck syndrome type 3 Kaneto et al., 2016 DNA PCR, SEQ - -
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 Family 3 OI IV Xu et al., 2017 DNA CNGP, PCR, SEQ - Han Chinese
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 227 OI XI Alabdullatif et al., 2016 DNA CMA, PCR, SEQ - -
+/+ 05 c.831dupC
    + c.831dupC
dbSNP Duplication Frameshift p.(Gly278Argfs*95) - - FKBP10_00002 No. 85 OI IV Caparros-Martin et al., 2016 DNA PCR, SEQ - Egyptian
+/+ 05 c.877_879del
    + c.877_879del
- Deletion In-frame deletion p.(Tyr293del) - - FKBP10_00017 AN_002002 Kuskokwim Disease Barnes et al., 2012, United States:Bethesda DNA SEQ Founder allele in Kuskokwim Disease. This patient is also known as Proband 1 and has an affected sibling, proband 2 (AN_002005). This individual is also described as Proband 1 (K2-II.1) in Barnes et al., 2013. Yup'ik Eskimo
+/+ 05 c.877_879del
    + c.877_879del
- Deletion In-frame deletion p.(Tyr293del) - - FKBP10_00017 AN_002003 Kuskokwim Disease Barnes et al., 2013, United States:Bethesda DNA PCR, SEQ Founder allele in Kuskokwim Disease This patient is also known as Proband 3 (K3-III.5) and has an affected sibling, proband 4 (AN_002006). Yup'ik Eskimo
+/+ 05 c.877_879del
    + c.877_879del
- Deletion In-frame deletion p.(Tyr293del) - - FKBP10_00017 AN_002004 Kuskokwim Disease Barnes et al., 2013, United States:Bethesda DNA PCR, SEQ Founder allele in Kuskokwim Disease. This individual is Proband 5 (K5-II.8). Yup'ik Eskimo
+/+ 05 c.879C>G
    + c.918-3C>G
- Substitution Nonsense p.(Tyr293*) - - FKBP10_00035 Family 2 OI IV Xu et al., 2017 DNA CNGP, PCR, SEQ The family in this study was presented again as Family 31 by Liu et al., 2017. Han Chinese
+/+ 05i c.918-3C>G
    + c.879C>G
- Substitution Splice site - - - FKBP10_00036 Family 2 OI IV Xu et al., 2017 DNA CNGP, PCR, SEQ The family in this study was presented again as Family 31 by Liu et al., 2017. Han Chinese
+/+ 06 c.948dupT
    + c.831dupC
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family C Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan/European
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family A Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family B Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ There is marked phenotypic variability in this family. Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family D Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family E Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family F Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family G Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family H Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family I Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.948dupT
    + c.948dupT
- Duplication Frameshift p.(Ile317Tyrfs*56) - - FKBP10_00024 Family J Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - Samoan
+/+ 06 c.950_951dup
    + c.950_951dup
- Duplication Frameshift p.(Gly318Serfs*48) - - FKBP10_00019 OI Le Merrer et al., 2010 Unknown SEQ The patient is described as having a severe form of OI. -
+/+ 06 c.976delA
    + c.976delA
- Deletion Frameshift p.(Met326Trpfs*39) - - FKBP10_00030 OI XI Seyedhassani et al., 2016 DNA PCR, SEQ The parents are third-degree consanguineous. Iranian
+/+ 06 c.1016_1023dup
    + c.1016_1023dup, COL1A1 (2)
- Duplication Frameshift p.(Thr342Glyfs*26) - - FKBP10_00006 Bruck syndrome type 3 Shaheen et al., 2010 DNA PCR, SEQ The FKBP10 variant in this patient is incorrectly described by Shaheen et al. as c.1023insGGAGAATT and p.Tyr342Glyfs*367. The patient is also homozygous for the COL1A1 variant c.613C>G, though any contribution of this variant to the phenotype is not clear. This patient's family has the ID OI_F10 (Shaheen et al., 2012). Saudi Arabian
+/+ 06i c.1063+2T>C
    + c.179A>C
- Substitution Splice site - - - FKBP10_00108 P.28 OI XI Trancozo et al., 2019 DNA SEQ - Brazilian
+/+ 07 c.1086delC
    + c.343C>T
- Deletion Frameshift p.(Val363Cysfs*2) - - FKBP10_00034 Family 1 OI III Xu et al., 2017 DNA CNGP, PCR, SEQ The protein-level variant description for the paternal allele is incorrectly described by the authors as p.A362fsX1. The family in this study was presented again as Family 30 by Liu et al., 2017 with a phenotype of OI III. Han Chinese
?/- 07 c.1152A>T dbSNP Substitution Silent p.(=) - - FKBP10_00005 - - dbSNP Unknown Unknown - -
+/+ 07 c.1207C>T
    + c.1207C>T
dbSNP Substitution Nonsense p.(Arg403*) - - FKBP10_00013 OI IV Steinlein et al., 2011 DNA SEQ The parents are not known to be related but are from neighbouring small villages in Bavaria. German
+/+ 07i c.1257-2A>G
    + c.1257-2A>G
- Substitution Splice site - - - FKBP10_00046 OI XI Maghami et al., 2018 DNA, RNA PCR, RT-PCR, SEQ, WES The parents are consanguineous marriage partners. The pathogenic variant causes skipping of exon 8 and a frameshift, but the mRNA remains stable. Iranian
+/+ 08 c.1271_1272delCCinsA
    + c.1271_1272delCCinsA
- Insertion/Deletion Frameshift p.(Ala424Aspfs*12) - - FKBP10_00014 AN_002001 OI XI Barnes et al., 2012, United States:Bethesda DNA PCR, SEQ This patient is "Proband 9". Palestinian
+/+ 08 c.1271_1272delCCinsA
    + c.1271_1272delCCinsA
- Insertion/Deletion Frameshift p.(Ala424Aspfs*12) - - FKBP10_00014 AN_002101 Bruck syndrome type 3 Puig-Hervás et al., 2012, Spain:Madrid DNA SEQ Family 1 Egypt
+/+ 08 c.1271_1272delCCinsA
    + c.1271_1272delCCinsA
- Insertion/Deletion Frameshift p.(Ala424Aspfs*12) - - FKBP10_00014 AN_002102 Bruck syndrome type 3 Puig-Hervás et al., 2012, Spain:Madrid DNA SEQ Family 2 Egypt
+/+ 08 c.1276dupC
    + c.831dupC
- Duplication Frameshift p.(Gln426Profs*54) - - FKBP10_00008 Case 5 Bruck syndrome type 3 Kelley et al., 2011 DNA PCR, SEQ The clinical history of the patient has been described twice before by Viljoen et al., 1989 and by Mokete et al., 2005. Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 (Bank et al., 1999), whereas FKBP10 maps to 17q21.2. South African
+/+ 08 c.1330C>T
    + c.1330C>T
- Substitution Nonsense p.(Gln444*) - - FKBP10_00025 Family L Bruck syndrome type 3 Schwarze et al., 2013, United States:Seattle DNA PCR, SEQ - -
+/+? 08 c.1345G>A
    + c.1345G>A
- Substitution Missense p.(Gly449Arg) - - FKBP10_00018 Patient 2 OI Prasun et al., 2012 Unknown SEQ The form of OI in the proband is described as severe. The parents are cousins through both their maternal and paternal lines. Lebanese
+/+ 08i c.1399+1G>A
    + c.1399+1G>A
- Substitution Splice site - - - FKBP10_00011 O_137 OI Venturi et al., 2011 DNA PCR, SEQ The patient is described as initially having type I OI but that the phenotype became progressively more severe. The mutation causes both skipping of exon 8 and activation of a cryptic donor splice site, each resulting in a frameshift and premature translation termination. Italian
+/+ 09 c.1405G>T
    + c.764_772dup
- Substitution Nonsense p.(Gly469*) - - FKBP10_00027 Family 1 Bruck syndrome type 1 Zhou et al., 2014 DNA PCR, SEQ - Chinese
+/+ 09 c.1490G>A
    + c.1490G>A
- Substitution Nonsense p.(Trp497*) - - FKBP10_00029 Family A OI Umair et al., 2016 DNA PCR, SEQ - Pakistani
1 - 76

Legend: [ FKBP10 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
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. FKBP10 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