Variant (rsID / SNP)

rs150607716

rs150607716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 146,536,981. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CNTNAP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:146536981
Cytoband: 7q35
HGVS: NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=)
Allele change: Synonymous_Q129Q

Associated conditions / phenotypes

Cortical dysplasia-focal epilepsy syndrome

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.