View all transcript variants in gene VARS2

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.
Legend  

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     
./. - 19/30 c.1787C>A p.(Ala596Asp) possibly_damaging(0.691) missense_variant - deleterious(0) 6 Unknown subst g.30889753C>A - 4.940 - VARS2_000002 MSCV_0001182 NA - ; - - - - -
./. - - c.1787C>A p.(Ala596Asp) - - - - 6 Unknown - g.30889753C>A - - - VARS2_000002 MSCV_0001182 - - ; clinvar; - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium