Full data view for gene SDHC

This database is one of the TCA cycle gene variant databases
Information The variants shown are described using the NM_003001.3 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     
?/. 1 c.6del r.(?) p.(Ala3Argfs*4) - - Parent #1 - VUS g.161284201del g.161314411del - - SDHC_000063 - PubMed: Miettinen - - Unknown - - - 0 - DNA SEQ - - cancer - PubMed: Miettinen SDHA-positive GIST - - United States - - 0 - - 1 Jean-Pierre Bayley
+?/+? - c.6del r.(?) p.(Ala3Argfs*4) - - Unknown - likely pathogenic g.161284201del g.161314411del - - SDHC_000063 SDHB IHC Neg, SDHA IHC Pos. Carney triad with ganglioneuroma PubMed: Boikos - - Unknown ? - - 0 - DNA SEQ - - Carney complex variant - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas F ? United States - - 0 - - 1 Jean-Pierre Bayley
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