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Variant (rsID / SNP)

rs139363830

RYR1

rs139363830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,956,779. 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
19:38956779
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.2919C>T (p.His973=)
Allele change
Synonymous_H973H

Associated conditions / phenotypes

Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|Congenital multicore myopathy with external ophthalmoplegia|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.