View all transcript variants in 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     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

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

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium