Variant (rsID / SNP)

rs182257230

rs182257230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR3. Location: chromosome 15, position 34,150,083. Clinical significance in the table: Benign.

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Reference-table entries

RYR3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:34150083
Cytoband: 15q14
HGVS: NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys)
Allele change: Missense_E4699K

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.