Variant (rsID / SNP)

rs1432807966

rs1432807966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,076,607. 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: 19:39076607
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
Allele change: Nonsense_R4940X

Associated conditions / phenotypes

RYR1-Related Disorders|Congenital multicore myopathy with external ophthalmoplegia

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.