View all transcript variants in gene PDHA1

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

2 entries on 1 page. Showing entries 1 - 2.
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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     

Variant_disease     

Owner     
./. - - 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 - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium