V19A (p.Val19Ala) variant of RYR1 (Ryanodine receptor 1)
V19A (p.Val19Ala) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 1. The record also includes published literature.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- rs2513956289
- ClinGen CA405671404
- ClinVar RCV004013993
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 1
- Missense
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)