R58G (p.Arg58Gly) variant of MYL2 (P10916)
R58G (p.Arg58Gly) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 10. The record also includes published literature and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- rs756671869
- ClinGen CA386698865
- ClinVar RCV003515393
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance (in CMH10)
- UniProt: Uncertain significance (in CMH10)
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)