Variant (rsID / SNP)

rs118192117

rs118192117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,942,486. Clinical significance in the table: Pathogenic.

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Reference-table entries

RYR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:38942486
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)
Allele change: Missense_M402T

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion|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.