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Variant (rsID / SNP)

rs181347577

DEPDC5

rs181347577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,218,692. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DEPDC5Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
22:32218692
Cytoband
22q12.3
HGVS
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
Allele change
Missense_R674C

Associated conditions / phenotypes

Childhood epilepsy with centrotemporal spikes|Seizure|Epilepsy, familial focal, with variable foci 1|Familial focal epilepsy with variable foci

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.