Variant (rsID / SNP)

rs118192179

rs118192179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,070,635. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RYR1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:39070635
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
Allele change: Missense_L4788P

Associated conditions / phenotypes

Central core myopathy|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.