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Variant (rsID / SNP)

rs116647440

CNTN2

rs116647440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTN2. Location: chromosome 1, position 205,033,819. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNTN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:205033819
Cytoband
1q32.1
HGVS
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile)
Allele change
Missense_T487I

Associated conditions / phenotypes

Epilepsy, familial adult myoclonic, 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.