Unique variants in gene SDHC

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     

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.*1181_*1182insA p.(=) - - - - - g.161333404_161333405insA - - - SDHC_000002 - - ; clinvar; - - - LOVD
./. 1 - - c.*1584C>G p.(=) - - - - - g.161333807C>G - - - SDHC_000001 - - ; clinvar; - - - LOVD
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium