G77S (p.Gly77Ser) variant of DSC2 (Desmocollin-2)
G77S (p.Gly77Ser) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 11. The record also includes published literature and structural context.
G77S (p.Gly77Ser) variant details
- p.Gly77Ser
- rs2510956199
- ClinGen CA402114831
- ClinVar RCV003518820
- NCI-TCGA Cosmic COSV9919
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 11
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)