View all transcript variants in gene SDHA

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.1523C>T p.(Thr508Ile) - - - - 5 Unknown - g.240563C>T - - - SDHA_000003 MSCV_0001011 - - ; clinvar; - - - -
+/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01) 5 Unknown subst g.240563C>T - 4.950 - SDHA_000003 MSCV_0001011 rs151266052 - ; clinVar; ensembl; 22972948 - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium