Variant (rsID / SNP)

rs200089665

rs200089665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTN2. Location: chromosome 1, position 205,033,797. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CNTN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:205033797
Cytoband: 1q32.1
HGVS: NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp)
Allele change: Missense_R480W

Associated conditions / phenotypes

Epilepsy, familial adult myoclonic, 5

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.