Variant (rsID / SNP)

rs138799232

rs138799232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN1A. Location: chromosome 2, position 166,898,843. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:166898843
Cytoband: 2q24.3
HGVS: NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln)
Allele change: Missense_R701Q

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts

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.