View all transcript variants in gene ELAC2

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     

Owner     
./. - - c.631A>T p.(Arg211*) - - - - 17 Unknown - g.12909284T>A - - - ELAC2_000003 MSCV_0000711 - - ; clinvar; - - - -
+/+ - 8/23 c.631A>T p.(Arg211*) - stop_gained - - 17 Unknown subst g.12909284T>A - 3.260 - ELAC2_000003 MSCV_0000711 rs397515464 - ; clinvar; 23849775 - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium