Variant (rsID / SNP)

rs774919231

rs774919231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,942,467. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RYR1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:38942467
Cytoband: 19q13.2
HGVS: NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)
Allele change: Missense_E396K

Associated conditions / phenotypes

Congenital muscular dystrophy|Respiratory insufficiency|Myopathy

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.