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Variant (rsID / SNP)

rs193922839

RYR1

rs193922839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,025,415. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RYR1Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:39025415
Cytoband
19q13.2
HGVS
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
Allele change
Missense_R3767Q

Associated conditions / phenotypes

Pelvic girdle muscle weakness|Progressive distal muscle weakness|Proximal muscle weakness|Scoliosis|Delayed gross motor development|Malignant hyperthermia of anesthesia|Neuromuscular disease|RYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.