Full data view for gene SDHA

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

10 entries on 1 page. Showing entries 1 - 10.
Legend  

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ - 1/14 c.1A>C p.? benign(0.067) initiator_codon_variant - tolerated(0.14) Unknown subst g.218471A>C - 2.450 - SDHA_000001 rs1061517 - ; clinVar; Ensembl; 10746566 - - - - - - - - - - - - - - - - - - -
./. - 1/14 c.1A>G p.? benign(0.067) initiator_codon_variant - deleterious(0.02) Unknown subst g.218471A>G - 2.450 - SDHA_000002 rs1061517 - ; 10746566 - - - - - - - - - - - - - - - - - - -
./. - - c.1092C>T - - - - - Unknown - g.235286C>T - - - SDHA_000009 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 11/15 c.1523C>T p.(Thr508Ile) benign(0.33) missense_variant - deleterious(0.01) Unknown subst g.240563C>T - 4.950 - SDHA_000003 rs151266052 - ; clinVar; ensembl; 22972948 - - - - - - - - - - - - - - - - - - -
./. - 11/15 c.1526C>T p.(Ser509Leu) benign(0.144) missense_variant - deleterious(0.01) Unknown subst g.240566C>T - 4.950 - SDHA_000004 rs397514541 - ; ensembl; 22972948 - - - - - - - - - - - - - - - - - - -
./. - - c.1526C>T - - - - - Unknown - g.240566C>T - - - SDHA_000004 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - - c.1552-3382C>T p.(=) - - - - Unknown subst g.251126C>T - 3.690 - SDHA_000005 rs137852767 - ; clinVar; Ensembl; 10746566 - - - - - - - - - - - - - - - - - - -
./. - - c.1552-3373G>A - - - - - Unknown - g.251135G>A - - - SDHA_000008 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - - c.1552-3293C>T p.(=) - - - - Unknown subst g.251215C>T - -0.716 - SDHA_000006 rs9809219 - ; clinVar; Ensembl; 7550341 - - - - - - - - - - - - - - - - - - -
+/+ - - c.1552-3055G>A p.(=) - - - - Unknown subst g.251453G>A - 3.620 - SDHA_000007 rs137852768 - ; clinVar; Ensembl; 10746566;12794685;7550341;16798039;20551992 - - - - - - - - - - - - - - - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium