Variant (rsID / SNP)

rs41264871

rs41264871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTN2. Location: chromosome 1, position 205,035,727. Clinical significance in the table: Benign.

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Reference-table entries

CNTN2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:205035727
Cytoband: 1q32.1
HGVS: NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp)
Allele change: Missense_N659D

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.