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Variant (rsID / SNP)

rs144712084

DEPDC5

rs144712084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,161,029. 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
22:32161029
Cytoband
22q12.2
HGVS
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp)
Allele change
Missense_N88D

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.