Variant (rsID / SNP)

rs150254933

rs150254933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA2. Location: chromosome 8, position 27,320,542. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHRNA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:27320542
Cytoband: 8p21.2
HGVS: NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly)
Allele change: Missense_V458G

Associated conditions / phenotypes

Autosomal dominant nocturnal frontal lobe epilepsy 4|Autosomal dominant nocturnal frontal lobe epilepsy

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.