Variant (rsID / SNP)

rs148104020

rs148104020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNTNAP2. Location: chromosome 7, position 147,869,452. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CNTNAP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:147869452
Cytoband: 7q35
HGVS: NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)
Allele change: Synonymous_S964S

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.