Variant: rs1556779417 

    present in Gene: RBM10
    present in Chromosome: X
    Position on Chromosome: 47181541
    Alleles of this Variant: GT/-

rs1556779417 in RBM10 gene and Dysmorphic features PMID 24259342 2014 Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

PMID 24530524 2014 RBM10 regulates alternative splicing.

PMID 28577551 2017 Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

PMID 21910224 2011 Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

PMID 5410571 1970 Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

PMID 20451169 2010 Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

rs1556779417 in RBM10 gene and Multiple congenital anomalies PMID 28577551 2017 Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

PMID 24530524 2014 RBM10 regulates alternative splicing.

PMID 20451169 2010 Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

PMID 21910224 2011 Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

PMID 5410571 1970 Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

PMID 24259342 2014 Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

rs1556779417 in RBM10 gene and Muscle hypotonia PMID 5410571 1970 Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

PMID 20451169 2010 Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

PMID 28577551 2017 Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

PMID 21910224 2011 Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

PMID 24530524 2014 RBM10 regulates alternative splicing.

PMID 24259342 2014 Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.