Unique variants in 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.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ 1 - 1/6 c.29G>C p.(Arg10Pro) benign(0.262) missense_variant - deleterious(0.02) subst g.19362184G>C - 3.150 - PDHA1_000013 rs137853257 - ; clinvar; ensembl; 7573035 - - LOVD
./. 1 - 8/12 c.727T>A p.(Phe243Ile) possibly_damaging(0.876) missense_variant - deleterious(0) subst g.19373476T>A - 5.760 - PDHA1_000014 NA - ; - - - LOVD
+/+ 1 - 8/12 c.729C>G p.(Phe243Leu) possibly_damaging(0.586) missense_variant - deleterious(0) subst g.19373478C>G - -4.830 - PDHA1_000009 rs137853254 - ; clinvar; ensembl; 12379317;8199595 - - LOVD
+/+ 1 - 8/12 c.762A>C p.(Leu254Phe) probably_damaging(1) missense_variant - deleterious(0) subst g.19373511A>C - -1.770 - PDHA1_000010 rs121917898 - ; clinvar; 12379317 - - LOVD
+/+ 1 - 8/12 c.841T>A p.(Tyr281Asn) probably_damaging(0.985) missense_variant - deleterious(0) subst g.19373590T>A - 5.760 - PDHA1_000011 rs137853255 - ; clinvar; ensembl; 8032855 - - LOVD
./. 1 - 8/12 c.844A>C p.(Lys282Gln) possibly_damaging(0.585) missense_variant - deleterious(0.05) subst g.19373593A>C - 5.760 - PDHA1_000012 NA - ; - - - LOVD
+/+ 1 - 9/12 c.887A>C p.(Asp296Ala) probably_damaging(1) missense_variant - deleterious(0) subst g.19373817A>C - 5.640 - PDHA1_000001 rs137853253 - ; clinvar; ensembl; 8498846 - - LOVD
+/+ 1 - 9/12 c.901C>G p.(Arg301Gly) probably_damaging(0.998) missense_variant - deleterious(0) subst g.19373831C>G - 4.770 - PDHA1_000002 rs137853259 - ; clinvar; ensembl; 3137520;9266390;1508605;8504306 - - LOVD
+/+ 1 - 10/12 c.958A>C p.(Met320Leu) benign(0.01) missense_variant - tolerated(1) subst g.19375782A>C - 5.530 - PDHA1_000003 rs2229137 - ; clinvar; ensembl; 8032855 - - LOVD
+/+ 1 - 10/12 c.977G>A p.(Arg326His) probably_damaging(0.927) missense_variant - deleterious(0) subst g.19375801G>A - 4.660 - PDHA1_000004 rs137853258 - ; clinvar; ensembl; 10486093 - - LOVD
+/+ 1 - 11/12 c.1018C>T p.(Arg340Cys) possibly_damaging(0.538) missense_variant - deleterious(0.01) subst g.19377038C>T - 5.870 - PDHA1_000005 rs137853252 - ; clinvar; ensembl; 1293379;9671272 - - LOVD
./. 1 - - c.1051_1053del p.(Lys351del) - - - - del g.19377071_19377073del - - - PDHA1_000006 - - ; - - - LOVD
+/+ 1 - 11/12 c.1057G>A p.(Asp353Asn) probably_damaging(1) missense_variant - deleterious(0) subst g.19377077G>A - 5.870 - PDHA1_000007 rs137853256 - ; clinvar; ensembl; 8032855 - - LOVD
+/+ 1 - 12/12 c.1247G>A p.(Arg416His) probably_damaging(0.97) missense_variant - deleterious(0) subst g.19377731G>A - 5.630 - PDHA1_000008 rs137853250 - ; clinvar; ensembl; 8032855;1909401 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium