Variant (rsID / SNP)
rs138481453
rs138481453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 147,844,637. 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
- 7:147844637
- Cytoband
- 7q35
- HGVS
- NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
- Allele change
- Missense_V870A
Associated conditions / phenotypes
Cortical dysplasia-focal epilepsy syndrome|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.