Variant (rsID / SNP)

rs200546427

rs200546427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN2A. Location: chromosome 2, position 166,179,953. 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: 2:166179953
Cytoband: 2q24.3
HGVS: NM_001040142.2(SCN2A):c.1959G>A (p.Val653=)
Allele change: Synonymous_V653V

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.