Variant (rsID / SNP)
rs200950673
rs200950673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,008,026. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RYR1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39008026
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
- Allele change
- Missense_E3238G
Associated conditions / phenotypes
Axial myopathy, late-onset|Malignant hyperthermia of anesthesia|Central core myopathy|Multiminicore myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.