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Variant (rsID / SNP)

rs141721605

CHRNA2

rs141721605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA2. Location: chromosome 8, position 27,320,726. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHRNA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:27320726
Cytoband
8p21.2
HGVS
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)
Allele change
Missense_E397K

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.