Variant (rsID / SNP)

rs17183814

rs17183814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,152,389. Clinical significance in the table: Benign.

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Reference-table entries

SCN2ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:166152389
Cytoband: 2q24.3
HGVS: NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)
Allele change: Missense_R19K

Associated conditions / phenotypes

Seizures, benign familial infantile, 3|History of neurodevelopmental disorder|Seizures, benign familial infantile, 3|Developmental and epileptic encephalopathy, 11

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.