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Variant (rsID / SNP)

rs144185168

CHRNA2

rs144185168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA2. Location: chromosome 8, position 27,327,406. 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
8:27327406
Cytoband
8p21.2
HGVS
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser)
Allele change
Missense_T56S

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.