Variant (rsID / SNP)

rs79137415

rs79137415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNB2. Location: chromosome 1, position 154,548,331. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHRNB2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:154548331
Cytoband: 1q21.3
HGVS: NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
Allele change: Missense_F478L

Associated conditions / phenotypes

Seizure|Autosomal dominant nocturnal frontal lobe epilepsy|Autosomal dominant nocturnal frontal lobe epilepsy 3

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.