Full data view for gene PDHA1

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

14 entries on 1 page. Showing entries 1 - 14.
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     

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 rs137853257 - ; clinvar; ensembl; 7573035 - - - - - - - - - - - - - - - - - - -
./. - 8/12 c.727T>A p.(Phe243Ile) possibly_damaging(0.876) missense_variant - deleterious(0) Unknown subst g.19373476T>A - 5.760 - PDHA1_000014 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 rs137853254 - ; clinvar; ensembl; 12379317;8199595 - - - - - - - - - - - - - - - - - - -
+/+ - 8/12 c.762A>C p.(Leu254Phe) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.19373511A>C - -1.770 - PDHA1_000010 rs121917898 - ; clinvar; 12379317 - - - - - - - - - - - - - - - - - - -
+/+ - 8/12 c.841T>A p.(Tyr281Asn) probably_damaging(0.985) missense_variant - deleterious(0) Unknown subst g.19373590T>A - 5.760 - PDHA1_000011 rs137853255 - ; clinvar; ensembl; 8032855 - - - - - - - - - - - - - - - - - - -
./. - 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 NA - ; - - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.887A>C p.(Asp296Ala) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.19373817A>C - 5.640 - PDHA1_000001 rs137853253 - ; clinvar; ensembl; 8498846 - - - - - - - - - - - - - - - - - - -
+/+ - 9/12 c.901C>G p.(Arg301Gly) probably_damaging(0.998) missense_variant - deleterious(0) Unknown subst g.19373831C>G - 4.770 - PDHA1_000002 rs137853259 - ; clinvar; ensembl; 3137520;9266390;1508605;8504306 - - - - - - - - - - - - - - - - - - -
+/+ - 10/12 c.958A>C p.(Met320Leu) benign(0.01) missense_variant - tolerated(1) Unknown subst g.19375782A>C - 5.530 - PDHA1_000003 rs2229137 - ; clinvar; ensembl; 8032855 - - - - - - - - - - - - - - - - - - -
+/+ - 10/12 c.977G>A p.(Arg326His) probably_damaging(0.927) missense_variant - deleterious(0) Unknown subst g.19375801G>A - 4.660 - PDHA1_000004 rs137853258 - ; clinvar; ensembl; 10486093 - - - - - - - - - - - - - - - - - - -
+/+ - 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 rs137853252 - ; clinvar; ensembl; 1293379;9671272 - - - - - - - - - - - - - - - - - - -
./. - - c.1051_1053del p.(Lys351del) - - - - Unknown del g.19377071_19377073del - - - PDHA1_000006 - - ; - - - - - - - - - - - - - - - - - - - -
+/+ - 11/12 c.1057G>A p.(Asp353Asn) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.19377077G>A - 5.870 - PDHA1_000007 rs137853256 - ; clinvar; ensembl; 8032855 - - - - - - - - - - - - - - - - - - -
+/+ - 12/12 c.1247G>A p.(Arg416His) probably_damaging(0.97) missense_variant - deleterious(0) Unknown subst g.19377731G>A - 5.630 - PDHA1_000008 rs137853250 - ; clinvar; ensembl; 8032855;1909401 - - - - - - - - - - - - - - - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium