All transcript variants in 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.
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Effect     

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium