Variant (rsID / SNP)

rs199810678

rs199810678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA2. Location: chromosome 8, position 27,327,345. 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: 8:27327345
Cytoband: 8p21.2
HGVS: NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu)
Allele change: Missense_P76L

Associated conditions / phenotypes

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.