Variant: rs1554596397 

    present in Gene: TRPS1
    present in Chromosome: 8
    Position on Chromosome: 115604881
    Alleles of this Variant: A/C

rs1554596397 in TRPS1 gene and Dysmorphic features PMID 10615131 2000 Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

PMID 24709795 2013 The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.

PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

rs1554596397 in TRPS1 gene and Multiple congenital anomalies PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

PMID 10615131 2000 Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

PMID 24709795 2013 The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.