present in Gene: VPS13B
present in Chromosome: 8
Position on Chromosome: 99641974
Alleles of this Variant: -/GTCC
rs1554884733 in
VPS13B gene and
Dysmorphic 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 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.
PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
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 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 17990063 2007 Clinical and molecular characterization of Italian patients affected by 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.
PMID 16648375 2006 Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
rs1554884733 in
VPS13B gene and
Movement Disorders
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 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
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 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 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 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
PMID 15498460 2004 Analysis of the human VPS13 gene family.
PMID 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.
PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
rs1554884733 in
VPS13B gene and
Muscle hypotonia
PMID 26104215 2015 Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
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 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 17990063 2007 Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
PMID 15498460 2004 Analysis of the human VPS13 gene family.
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 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 21418059 2011 Clinical variability of genetic isolates of Cohen syndrome.