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.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     
-/- 2 c.113A>T - r.(?) p.(Asp38Val) - - g.223646A>T g.223531A>T p.D38V - SDHA_000009 - PubMed: Bonache - - Germline - 6.5% - 0 - Jean-Pierre Bayley
-/. - c.113A>T benign r.(?) p.(Asp38Val) - - g.223646A>T - SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.113A>T benign r.(?) p.(Asp38Val) - - g.223646A>T - SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.113A>T likely benign r.(?) p.(Asp38Val) - - g.223646A>T - SDHA(NM_004168.3):c.113A>T (p.D38V) - SDHA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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