Variant (rsID / SNP)

rs2280375

rs2280375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA2. Location: chromosome 8, position 27,317,337. Clinical significance in the table: Benign.

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Reference-table entries

CHRNA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:27317337
Cytoband: 8p21.2
HGVS: NM_000742.4(CHRNA2):c.*1809T>C
Allele change: Silent

Associated conditions / phenotypes

Autosomal dominant nocturnal frontal lobe epilepsy 4

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.