Variant (rsID / SNP)

rs143734912

rs143734912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,179,835. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCN2AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:166179835
Cytoband: 2q24.3
HGVS: NM_001040142.2(SCN2A):c.1841C>T (p.Pro614Leu)
Allele change: Missense_P614L

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 11|Seizures, benign familial infantile, 3

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.