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Variant (rsID / SNP)

rs144716263

CHRNA4

rs144716263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRNA4. Location: chromosome 20, position 61,982,174. 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
20:61982174
Cytoband
20q13.33
HGVS
NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys)
Allele change
Missense_R197C

Associated conditions / phenotypes

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.