Variant (rsID / SNP)
rs76537615
rs76537615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,974,116. 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
- 19:38974116
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
- Allele change
- Missense_P1632S
Associated conditions / phenotypes
Malignant hypothermia|Multiminicore myopathy|Central core myopathy|Malignant hyperthermia of anesthesia|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.