Variant: rs1553606128 

    present in Gene: GLB1
    present in Chromosome: 3
    Position on Chromosome: 33014279
    Alleles of this Variant: -/CT

rs1553606128 in GLB1 gene and Gangliosidosis, Generalized GM1, Type 1 (disorder) PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PMID 17221873 2007 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

rs1553606128 in GLB1 gene and Gangliosidosis, Generalized GM1, Type 2 PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PMID 17221873 2007 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

rs1553606128 in GLB1 gene and Gangliosidosis, Generalized GM1, Type 3 PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PMID 17221873 2007 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.

rs1553606128 in GLB1 gene and Mucopolysaccharidosis type IVB PMID 17309651 2007 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

PMID 17221873 2007 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.