Variant: rs1554062562 

    present in Gene: TRIO
    present in Chromosome: 5
    Position on Chromosome: 14359442
    Alleles of this Variant: C/T

rs1554062562 in TRIO gene and Dysmorphic features PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

rs1554062562 in TRIO gene and Multiple congenital anomalies PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.

PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.

PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

rs1554062562 in TRIO gene and Overgrowth PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.

PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.