Variant (rsID / SNP)

rs202227830

rs202227830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,275,576. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DEPDC5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:32275576
Cytoband: 22q12.3
HGVS: NM_001242896.3(DEPDC5):c.3871C>T (p.Arg1291Cys)
Allele change: Missense_R1269C

Associated conditions / phenotypes

Seizure|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.