Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 4 c.356G>A r.(?) p.(Trp119*) - - Parent #2 - VUS g.225577G>A g.225462G>A W119X - SDHA_000007 - PubMed: Horvath - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - LS - - 1 isolated case - - - - - 0 - - 1 Jean-Pierre Bayley
+/? 4 c.356G>A r.(?) p.(Trp119*) 0.16 - Paternal (confirmed) - pathogenic g.225577G>A g.225462G>A W119X - SDHA_000007 - - - - Unknown - - - 0 - DNA, RNA DSCA, RT-PCR, SEQ - - LS - - This patient is the same as described by {PMID16361598:Horvath et al. (2006)} - - - - - 0 - - 1 Herma Renkema
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