Variant (rsID / SNP)
rs143286960
rs143286960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 147,674,990. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CNTNAP2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:147674990
- Cytoband
- 7q35
- HGVS
- NM_014141.6(CNTNAP2):c.2292C>T (p.His764=)
- Allele change
- Synonymous_H764H
Associated conditions / phenotypes
History of neurodevelopmental disorder|Cortical dysplasia-focal epilepsy syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.