Variant: rs120074152 

    present in Gene: VPS13B
    present in Chromosome: 8
    Position on Chromosome: 99384294
    Alleles of this Variant: C/T

rs120074152 in VPS13B gene and Dysmorphic features PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

rs120074152 in VPS13B gene and Muscle hypotonia PMID 15498460 2004 Analysis of the human VPS13 gene family.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

PMID 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 11477603 2001 Cohen syndrome: essential features, natural history, and heterogeneity.

PMID 12730828 2003 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

PMID 9628581 1998 Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.

PMID 20656880 2010 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.