Variant (rsID / SNP)
rs144157950
rs144157950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,976,294. Clinical significance in the table: Benign.
Reference-table entries
RYR1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38976294
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
- Allele change
- Missense_R1667C
Associated conditions / phenotypes
Malignant hyperthermia, susceptibility to, 1|Malignant hypothermia|Neuromuscular disease, congenital, with uniform type 1 fiber|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.