Variant (rsID / SNP)

rs28931591

rs28931591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA4. Location: chromosome 20, position 61,981,912. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHRNA4Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:61981912
Cytoband: 20q13.33
HGVS: NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
Allele change: Missense_S284L

Associated conditions / phenotypes

Autosomal dominant nocturnal frontal lobe epilepsy 1|Autosomal dominant nocturnal frontal lobe epilepsy|Seizure

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.