Variant: rs587776973 

    present in Gene: DEPDC5
    present in Chromosome: 22
    Position on Chromosome: 31815209
    Alleles of this Variant: C/G;T

rs587776973 in DEPDC5 gene and EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

rs587776973 in DEPDC5 gene and Epilepsy, Partial, with Variable Foci PMID 28102150 2017 Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

rs587776973 in DEPDC5 gene and Seizures PMID 23869883 2013 Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.

PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.