Variant: rs201257588 

    present in Gene: TBC1D24
    present in Chromosome: 16
    Position on Chromosome: 2496206
    Alleles of this Variant: C/G;T

rs201257588 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.

rs201257588 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.

rs201257588 in TBC1D24 gene and Abnormality of the skull 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.

rs201257588 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.

rs201257588 in TBC1D24 gene and Nail abnormality 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.

rs201257588 in TBC1D24 gene and Poor school performance 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.

rs201257588 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.

rs201257588 in TBC1D24 gene and Sensorineural hearing loss, bilateral 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.

rs201257588 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.