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Variant (rsID / SNP)

rs34390345

RYR1

rs34390345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,989,817. Clinical significance in the table: Benign.

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Reference-table entries

RYR1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
19:38989817
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
Allele change
Missense_I2321V

Associated conditions / phenotypes

Malignant hyperthermia, susceptibility to, 1|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.