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Variant (rsID / SNP)

rs375709463

RYR1

rs375709463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,964,322. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RYR1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:38964322
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=)
Allele change
Synonymous_P1357P

Associated conditions / phenotypes

Neuromuscular disease, congenital, with uniform type 1 fiber|Multiminicore myopathy|Malignant hyperthermia of anesthesia|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.