Variant: rs398122965 

    present in Gene: TBC1D24
    present in Chromosome: 16
    Position on Chromosome: 2496872
    Alleles of this Variant: C/T

rs398122965 in TBC1D24 gene and Abnormality of brain morphology PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs398122965 in TBC1D24 gene and Abnormality of digit PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs398122965 in TBC1D24 gene and Abnormality of the skull PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs398122965 in TBC1D24 gene and Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

rs398122965 in TBC1D24 gene and DEAFNESS, AUTOSOMAL DOMINANT 65 PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

rs398122965 in TBC1D24 gene and Digitorenocerebral Syndrome PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs398122965 in TBC1D24 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 PMID 27281533 2016 TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs398122965 in TBC1D24 gene and Nail abnormality PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs398122965 in TBC1D24 gene and Poor school performance PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs398122965 in TBC1D24 gene and Seizures PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs398122965 in TBC1D24 gene and Sensorineural hearing loss, bilateral PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

rs398122965 in TBC1D24 gene and Triphalangeal thumb PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.