Variant (rsID / SNP)

rs35364374

rs35364374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,983,180. Clinical significance in the table: Benign.

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Reference-table entries

RYR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:38983180
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)
Allele change: Missense_G2060C

Associated conditions / phenotypes

Central core myopathy|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|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.