G2A (p.Gly2Ala) variant of MYH7 (Myosin-7)
G2A (p.Gly2Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- rs2502323072
- ClinGen CA389054252
- NCI-TCGA Cosmic COSV6252
- ClinVar RCV003749312
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)