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Variant (rsID / SNP)

rs142540948

DEPDC5

rs142540948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,253,516. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DEPDC5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:32253516
Cytoband
22q12.3
HGVS
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)
Allele change
Missense_T1081P

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.