Variant (rsID / SNP)

rs200653339

rs200653339 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DEPDC5. Location: chromosome 22, position 32,270,378. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DEPDC5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:32270378
Cytoband: 22q12.3
HGVS: NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
Allele change: Missense_I1206T

Associated conditions / phenotypes

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

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.