Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs187334123

DEPDC5

rs187334123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,193,632. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DEPDC5Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
22:32193632
Cytoband
22q12.2
HGVS
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu)
Allele change
Missense_V272I

Associated conditions / phenotypes

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