Variant (rsID / SNP)
rs2305276
rs2305276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTN2. Location: chromosome 1, position 205,035,721. Clinical significance in the table: Benign.
Reference-table entries
CNTN2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:205035721
- Cytoband
- 1q32.1
- HGVS
- NM_005076.5(CNTN2):c.1969C>T (p.Arg657Trp)
- Allele change
- Missense_R657W
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.