Variant (rsID / SNP)

rs144056952

rs144056952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTN2. Location: chromosome 1, position 205,038,648. Clinical significance in the table: Likely benign.

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Reference-table entries

CNTN2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:205038648
Cytoband: 1q32.1
HGVS: NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg)
Allele change: Missense_G719R

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.