Variant: rs138632121 

    present in Gene: THOC6;HCFC1R1
    present in Chromosome: 16
    Position on Chromosome: 3026140
    Alleles of this Variant: T/A

rs138632121 in THOC6;HCFC1R1 gene and Multiple congenital anomalies PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

rs138632121 in THOC6;HCFC1R1 gene and Muscle hypotonia PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

rs138632121 in THOC6;HCFC1R1 gene and THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome PMID 27295358 2016 Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child's intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu-Boycott-Innes syndrome (BBIS).