Variant: rs1554189042 

    present in Gene: NSD1
    present in Chromosome: 5
    Position on Chromosome: 177210101
    Alleles of this Variant: -/AG

rs1554189042 in NSD1 gene and Dysmorphic features PMID 23592277 2013 The NSD1 and EZH2 overgrowth genes, similarities and differences.

PMID 23913520 2013 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 17825104 2007 Sotos syndrome.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 23599694 2013 Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

rs1554189042 in NSD1 gene and Multiple congenital anomalies PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 17825104 2007 Sotos syndrome.

PMID 23592277 2013 The NSD1 and EZH2 overgrowth genes, similarities and differences.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 23599694 2013 Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

PMID 23913520 2013 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?