Variant: rs104894858 

    present in Gene: LAMP2
    present in Chromosome: X
    Position on Chromosome: 120442599
    Alleles of this Variant: C/T

rs104894858 in LAMP2 gene and Glycogen Storage Disease Type IIb PMID 15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

PMID 19318653 2009 Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

PMID 18555174 2008 Danon disease: an unusual presentation of autism.

PMID 16217705 2005 We describe two cases of Danon disease with different clinical presentation, in whom we identified the same exon skipping mutation c.928G>A in the LAMP-2 gene.

PMID 19373884 2009 Danon disease: further clinical and molecular heterogeneity.

rs104894858 in LAMP2 gene and Hypertrophic Cardiomyopathy PMID 18555174 2008 Danon disease: an unusual presentation of autism.

PMID 19318653 2009 Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

PMID 15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

PMID 16217705 2005 Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

PMID 19373884 2009 Danon disease: further clinical and molecular heterogeneity.