A34R (p.Ala34Arg) variant of SDHC (Q99643)
A34R (p.Ala34Arg) in SDHC (Q99643) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A34R (p.Ala34Arg) variant details
- p.Ala34Arg
- rs2526364101
- ClinGen CA2580061309
- ClinVar RCV002376670
- ClinVar RCV005248682
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)