Variant (rsID / SNP)

rs121917750

rs121917750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,243,391. Clinical significance in the table: Pathogenic.

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Reference-table entries

SCN2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:166243391
Cytoband: 2q24.3
HGVS: NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)
Allele change: Missense_L1563V

Associated conditions / phenotypes

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.