Variant (rsID / SNP)
rs727503877
rs727503877 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 147,964,145. 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
- 7:147964145
- Cytoband
- 7q36.1
- HGVS
- NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=)
- Allele change
- Synonymous_V1134V
Associated conditions / phenotypes
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.