Variant (rsID / SNP)

rs139023249

rs139023249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR3. Location: chromosome 15, position 34,140,614. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RYR3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:34140614
Cytoband: 15q14
HGVS: NM_001036.6(RYR3):c.13620C>G (p.Ile4540Met)
Allele change: Missense_I4535M

Associated conditions / phenotypes

Epileptic encephalopathy

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.