Unique variants in gene EIF2AK3

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_004836.5 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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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 - - c.556T>C p.(Tyr186His) - - - - - g.88895064A>G - - - EIF2AK3_000001 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium