Variant (rsID / SNP)

rs193922884

rs193922884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,071,143. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RYR1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:39071143
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
Allele change: Missense_T4877M

Associated conditions / phenotypes

RYR1-Related Disorders|Central core myopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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