Variant (rsID / SNP)

rs16989535

rs16989535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,229,931. Clinical significance in the table: Benign.

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Reference-table entries

DEPDC5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:32229931
Cytoband: 22q12.3
HGVS: NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe)
Allele change: Missense_S712F

Associated conditions / phenotypes

Familial focal epilepsy with variable foci|Childhood epilepsy with centrotemporal spikes|Seizure

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.