Variant (rsID / SNP)

rs1249942711

rs1249942711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,976,804. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RYR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:38976804
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.5509C>T (p.Gln1837Ter)
Allele change: Nonsense_Q1837X

Associated conditions / phenotypes

RYR1-Related Disorders

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.