Variant: rs797044884 

    present in Gene: PTRH2;CLTC
    present in Chromosome: 17
    Position on Chromosome: 59677123
    Alleles of this Variant: -/GA

rs797044884 in PTRH2;CLTC gene and Dysmorphic features PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

PMID 24870542 2014 A draft map of the human proteome.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

rs797044884 in PTRH2;CLTC gene and Multiple congenital anomalies PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 24870542 2014 A draft map of the human proteome.

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

rs797044884 in PTRH2;CLTC gene and Muscle hypotonia PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24870542 2014 A draft map of the human proteome.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.