Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs185576553

DEPDC5

rs185576553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,239,669. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DEPDC5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:32239669
Cytoband
22q12.3
HGVS
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
Allele change
Missense_S891T

Associated conditions / phenotypes

Familial focal epilepsy with variable foci|Seizure

Public references

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