Variant (rsID / SNP)

rs886039255

rs886039255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,193,674. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DEPDC5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:32193674
Cytoband: 22q12.2
HGVS: NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)
Allele change: Nonsense_R286X

Associated conditions / phenotypes

Epilepsy, familial focal, with variable foci 1|Familial focal epilepsy with variable foci

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.