Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138682847

CHRNA2

rs138682847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA2. Location: chromosome 8, position 27,324,812. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CHRNA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:27324812
Cytoband
8p21.2
HGVS
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
Allele change
Missense_G113D

Associated conditions / phenotypes

Seizure|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.