Full data view for gene PDHA1

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
Legend  

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ - 1/6 c.29G>C p.(Arg10Pro) benign(0.262) missense_variant - deleterious(0.02) Unknown subst g.19362184G>C - 3.150 - PDHA1_000013 MSCV_0001523 rs137853257 - ; clinvar; ensembl; 7573035 - - - - - - - - - - - - - - - - - - -
./. - - c.29G>C p.(Arg10Pro) - - - - Unknown - g.19362184G>C - - - PDHA1_000013 MSCV_0001523 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.406-23A>G p.(=) - - - - Unknown - g.19369376A>G - - - PDHA1_000036 MSCV_0023456 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.536G>A p.(Arg179Gln) - - - - Unknown - g.19371203G>A - - - PDHA1_000029 MSCV_0023457 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.541G>A p.(Gly181Arg) - - - - Unknown - g.19371208G>A - - - PDHA1_000030 MSCV_0023458 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.548G>A p.(Cys183Tyr) - - - - Unknown - g.19371215G>A - - - PDHA1_000031 MSCV_0023459 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.569C>T p.(Ser190Leu) - - - - Unknown - g.19371236C>T - - - PDHA1_000032 MSCV_0023460 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.575A>G p.(His192Arg) - - - - Unknown - g.19371242A>G - - - PDHA1_000033 MSCV_0023461 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.605A>G p.(Asn202Ser) - - - - Unknown - g.19371272A>G - - - PDHA1_000034 MSCV_0023462 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.620C>T p.(Ala207Val) - - - - Unknown - g.19371287C>T - - - PDHA1_000035 MSCV_0023463 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.650T>G p.(Leu217Arg) - - - - Unknown - g.19372634T>G - - - PDHA1_000026 MSCV_0023464 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - 8/12 c.727T>A p.(Phe243Ile) possibly_damaging(0.876) missense_variant - deleterious(0) Unknown subst g.19373476T>A - 5.760 - PDHA1_000014 MSCV_0001524 NA - ; - - - - - - - - - - - - - - - - - - - -
+/+ - 8/12 c.729C>G p.(Phe243Leu) possibly_damaging(0.586) missense_variant - deleterious(0) Unknown subst g.19373478C>G - -4.830 - PDHA1_000009 MSCV_0001525 rs137853254 - ; clinvar; ensembl; 12379317;8199595 - - - - - - - - - - - - - - - - - - -
./. - - c.729C>G p.(Phe243Leu) - - - - Unknown - g.19373478C>G - - - PDHA1_000009 MSCV_0001525 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.754T>C p.(Trp252Arg) - - - - Unknown - g.19373503T>C - - - PDHA1_000027 MSCV_0023466 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 8/12 c.762A>C p.(Leu254Phe) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.19373511A>C - -1.770 - PDHA1_000010 MSCV_0001526 rs121917898 - ; clinvar; 12379317 - - - - - - - - - - - - - - - - - - -
./. - - c.762A>C p.(Leu254Phe) - - - - Unknown - g.19373511A>C - - - PDHA1_000010 MSCV_0001526 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 8/12 c.841T>A p.(Tyr281Asn) probably_damaging(0.985) missense_variant - deleterious(0) Unknown subst g.19373590T>A - 5.760 - PDHA1_000011 MSCV_0001527 rs137853255 - ; clinvar; ensembl; 8032855 - - - - - - - - - - - - - - - - - - -
./. - - c.841T>A p.(Tyr281Asn) - - - - Unknown - g.19373590T>A - - - PDHA1_000011 MSCV_0001527 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - 8/12 c.844A>C p.(Lys282Gln) possibly_damaging(0.585) missense_variant - deleterious(0.05) Unknown subst g.19373593A>C - 5.760 - PDHA1_000012 MSCV_0001528 NA - ; - - - - - - - - - - - - - - - - - - - -
./. - - c.873+26G>A p.(=) - - - - Unknown - g.19373648G>A - - - PDHA1_000028 MSCV_0023469 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.887A>C p.(Asp296Ala) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.19373817A>C - 5.640 - PDHA1_000001 MSCV_0001529 rs137853253 - ; clinvar; ensembl; 8498846 - - - - - - - - - - - - - - - - - - -
./. - - c.887A>C p.(Asp296Ala) - - - - Unknown - g.19373817A>C - - - PDHA1_000001 MSCV_0001529 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.901C>G p.(Arg301Gly) probably_damaging(0.998) missense_variant - deleterious(0) Unknown subst g.19373831C>G - 4.770 - PDHA1_000002 MSCV_0001530 rs137853259 - ; clinvar; ensembl; 3137520;9266390;1508605;8504306 - - - - - - - - - - - - - - - - - - -
./. - - c.901C>G p.(Arg301Gly) - - - - Unknown - g.19373831C>G - - - PDHA1_000002 MSCV_0001530 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 10/12 c.958A>C p.(Met320Leu) benign(0.01) missense_variant - tolerated(1) Unknown subst g.19375782A>C - 5.530 - PDHA1_000003 MSCV_0001531 rs2229137 - ; clinvar; ensembl; 8032855 - - - - - - - - - - - - - - - - - - -
./. - - c.958A>C p.(Met320Leu) - - - - Unknown - g.19375782A>C - - - PDHA1_000003 MSCV_0001531 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.975_976insT p.(Arg326Serfs*9) - - - - Unknown - g.19375799_19375800insT - - - PDHA1_000015 MSCV_0023473 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 10/12 c.977G>A p.(Arg326His) probably_damaging(0.927) missense_variant - deleterious(0) Unknown subst g.19375801G>A - 4.660 - PDHA1_000004 MSCV_0001532 rs137853258 - ; clinvar; ensembl; 10486093 - - - - - - - - - - - - - - - - - - -
./. - - c.977G>A p.(Arg326His) - - - - Unknown - g.19375801G>A - - - PDHA1_000004 MSCV_0001532 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1014-5_1014-4insATAGTTACCGTACACGAGAAG p.? - - - - Unknown - g.19377029_19377030insATAGTTACCGTACACGAGAAG - - - PDHA1_000016 MSCV_0023475 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 11/12 c.1018C>T p.(Arg340Cys) possibly_damaging(0.538) missense_variant - deleterious(0.01) Unknown subst g.19377038C>T - 5.870 - PDHA1_000005 MSCV_0001533 rs137853252 - ; clinvar; ensembl; 1293379;9671272 - - - - - - - - - - - - - - - - - - -
./. - - c.1018C>T p.(Arg340Cys) - - - - Unknown - g.19377038C>T - - - PDHA1_000005 MSCV_0001533 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1039_1045del p.(Ser350Valfs*12) - - - - Unknown - g.19377059_19377065del - - - PDHA1_000017 MSCV_0023477 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1044_1046del p.(Arg349del) - - - - Unknown - g.19377064_19377066del - - - PDHA1_000018 MSCV_0023478 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1051_1053del p.(Lys351del) - - - - Unknown del g.19377071_19377073del - - - PDHA1_000006 MSCV_0001534 - - ; - - - - - - - - - - - - - - - - - - - -
./. - - c.1051_1053del p.(Lys351del) - - - - Unknown - g.19377071_19377073del - - - PDHA1_000006 MSCV_0001534 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 11/12 c.1057G>A p.(Asp353Asn) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.19377077G>A - 5.870 - PDHA1_000007 MSCV_0001535 rs137853256 - ; clinvar; ensembl; 8032855 - - - - - - - - - - - - - - - - - - -
./. - - c.1057G>A p.(Asp353Asn) - - - - Unknown - g.19377077G>A - - - PDHA1_000007 MSCV_0001535 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1184_1203del p.(Glu396Glyfs*12) - - - - Unknown - g.19377668_19377687del - - - PDHA1_000019 MSCV_0023481 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1187_1188insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC p.(Pro397_Ser408dup) - - - - Unknown - g.19377671_19377672insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC - - - PDHA1_000020 MSCV_0023482 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1246C>T p.(Arg416Cys) - - - - Unknown - g.19377730C>T - - - PDHA1_000021 MSCV_0023483 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 12/12 c.1247G>A p.(Arg416His) probably_damaging(0.97) missense_variant - deleterious(0) Unknown subst g.19377731G>A - 5.630 - PDHA1_000008 MSCV_0001536 rs137853250 - ; clinvar; ensembl; 8032855;1909401 - - - - - - - - - - - - - - - - - - -
./. - - c.1247G>A p.(Arg416His) - - - - Unknown - g.19377731G>A - - - PDHA1_000008 MSCV_0001536 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1253_1254insCAAT p.(Trp421Serfs*6) - - - - Unknown - g.19377737_19377738insCAAT - - - PDHA1_000022 MSCV_0023485 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1273_1274del p.(Lys425Valfs*44) - - - - Unknown - g.19377757_19377758del - - - PDHA1_000023 MSCV_0023486 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1274_1277del p.(Ser428Lysfs*33) - - - - Unknown - g.19377758_19377761del - - - PDHA1_000024 MSCV_0023487 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*78_*79insAGTCAATGAAAT p.(=) - - - - Unknown - g.19377849_19377850insAGTCAATGAAAT - - - PDHA1_000025 MSCV_0023488 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium