Variant: rs137852520 

    present in Gene: L1CAM
    present in Chromosome: X
    Position on Chromosome: 153868866
    Alleles of this Variant: C/T

rs137852520 in L1CAM gene and Spastic Paraplegia PMID 10469653 1999 Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

PMID 11772994 2002 Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.

PMID 7920659 1994 X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

rs137852520 in L1CAM gene and X-linked hydrocephalus syndrome PMID 22344793 2012 Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.

PMID 19846429 2010 Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.

PMID 10797421 2000 Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

PMID 8401576 1993 A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

PMID 11857550 2002 Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

PMID 24155914 2013 Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.

PMID 20621658 2010 L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.

PMID 9832035 1998 The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.

PMID 9195224 1997 Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

PMID 7920659 1994 X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

PMID 8556302 1995 CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

PMID 12435569 2002 X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.

PMID 9744477 1998 Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

PMID 7762552 1995 New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

PMID 9268105 1997 Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.

PMID 22973895 2013 L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.

PMID 7562969 1995 Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

PMID 7881431 1994 X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

PMID 9521424 1998 Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.

PMID 8929944 1996 Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.