Variant (rsID / SNP)
rs147336515
rs147336515 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,954,162. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
RYR1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38954162
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
- Allele change
- Missense_G893S
Associated conditions / phenotypes
Congenital myopathy|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|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.