Variant: rs587776525 

    present in Gene: TMPPE;GLB1
    present in Chromosome: 3
    Position on Chromosome: 33097008
    Alleles of this Variant: -/A

rs587776525 in TMPPE;GLB1 gene and Gangliosidosis GM1 PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PMID 29160035 2018 Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

PMID 8199591 1994 Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

rs587776525 in TMPPE;GLB1 gene and Gangliosidosis, Generalized GM1, Type 1 (disorder) PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

rs587776525 in TMPPE;GLB1 gene and Mucopolysaccharidosis type IVB PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PMID 8199591 1994 Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

PMID 29160035 2018 Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.