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Variant (rsID / SNP)

rs121912283

CHRNA4

rs121912283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA4. Location: chromosome 20, position 61,981,128. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHRNA4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:61981128
Cytoband
20q13.33
HGVS
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
Allele change
Synonymous_T545T

Associated conditions / phenotypes

Tobacco use disorder|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.