Variant (rsID / SNP)

rs182972491

rs182972491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR3. Location: chromosome 15, position 34,080,628. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RYR3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:34080628
Cytoband: 15q14
HGVS: NM_001036.6(RYR3):c.9799C>T (p.Pro3267Ser)
Allele change: Missense_P3267S

Associated conditions / phenotypes

Epileptic encephalopathy|Inborn genetic diseases

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.