S7G (p.Ser7Gly) variant of TMEM43 (Transmembrane protein 43)
S7G (p.Ser7Gly) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5. The record also includes published literature and structural context.
S7G (p.Ser7Gly) variant details
- p.Ser7Gly
- rs2470176195
- ClinGen CA351534168
- ClinVar RCV002417085
- ClinVar RCV004007386
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 5
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- 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)