Variant (rsID / SNP)

rs117876038

rs117876038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 148,080,865. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNTNAP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:148080865
Cytoband: 7q36.1
HGVS: NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)
Allele change: Synonymous_S1200S

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.