Variant (rsID / SNP)

rs367543056

rs367543056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,981,349. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RYR1Not classified

Variant type: single nucleotide variant
Chromosome / position: 19:38981349
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.6104A>T (p.His2035Leu)
Allele change: Missense_H2035L

Associated conditions / phenotypes

Congenital myopathy with fiber type disproportion

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.