Variant (rsID / SNP)

rs114681942

rs114681942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR3. Location: chromosome 15, position 34,130,057. Clinical significance in the table: Likely benign.

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Reference-table entries

RYR3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:34130057
Cytoband: 15q14
HGVS: NM_001036.6(RYR3):c.11876T>C (p.Ile3959Thr)
Allele change: Missense_I3954T

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.