Variant (rsID / SNP)

rs2530311

rs2530311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 148,116,450. Clinical significance in the table: Benign.

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Reference-table entries

CNTNAP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:148116450
Cytoband: 7q36.1
HGVS: NM_014141.6(CNTNAP2):c.*3742A>G
Allele change: Silent

Associated conditions / phenotypes

Cortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like 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.