Variant: rs376712059 

    present in Gene: TBC1D24
    present in Chromosome: 16
    Position on Chromosome: 2496605
    Alleles of this Variant: G/A;C;T

rs376712059 in TBC1D24 gene and DEAFNESS, AUTOSOMAL DOMINANT 65 PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

rs376712059 in TBC1D24 gene and DEAFNESS, AUTOSOMAL RECESSIVE 86 PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

rs376712059 in TBC1D24 gene and Digitorenocerebral Syndrome PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

rs376712059 in TBC1D24 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

rs376712059 in TBC1D24 gene and Epilepsy, Myoclonic, Infantile PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.