All transcript variants in gene GPD2

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

1 entry on 1 page. Showing entry 1.
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Effect     

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     
+/+ - 15/17 c.1904T>C p.(Phe635Ser) benign(0.368) missense_variant - deleterious(0.01) subst g.157435621T>C - 5.890 - GPD2_000001 rs121918407 - ; clinVar; Ensembl; 9070847 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium