Variant (rsID / SNP)

rs118192164

rs118192164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,016,095. 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: 19:39016095
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser)
Allele change: Missense_P3522S

Associated conditions / phenotypes

Central core disease, autosomal recessive

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.