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Variant (rsID / SNP)

rs147707463

RYR1

rs147707463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,995,965. Clinical significance in the table: Likely benign.

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Reference-table entries

RYR1Likely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:38995965
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
Allele change
Missense_S2776F

Associated conditions / phenotypes

Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|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.