All transcript variants in gene SDHA

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_004168.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 7 c.818C>T r.(?) p.(Thr273Ile) - - - VUS g.231038C>T g.230923C>T p.(Thr273Ile) - SDHA_000050 - PubMed: Belinsky, PubMed: Miettinen - - Somatic - - - 0 - Jean-Pierre Bayley
?/. - c.818C>T r.(?) p.(Thr273Ile) - - - VUS g.231038C>T g.230923C>T - - SDHA_000050 conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs587781720 Germline - 11/2795 individuals - 0 - Mohammed Faruq
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