R7* (p.Arg7Ter) variant of SDHC (Q99643)

Name: SDHC R7* (p.Arg7Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

R7* (p.Arg7Ter) in SDHC (Q99643) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

R7* (p.Arg7Ter) variant details

p.Arg7Ter
rs1553260596
ClinGen CA658822732
ClinVar RCV000657830
ClinVar RCV003767891
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)