Variant: rs1429181351 

    present in Gene: GNPTAB
    present in Chromosome: 12
    Position on Chromosome: 101764957
    Alleles of this Variant: TA/-

rs1429181351 in GNPTAB gene and Dysmorphic features PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 20367762 2010 The natural history and osteodystrophy of mucolipidosis types II and III.

PMID 26749367 2016 Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

PMID 23192343 2013 Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

PMID 20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

rs1429181351 in GNPTAB gene and Multiple congenital anomalies PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 26749367 2016 Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

PMID 20367762 2010 The natural history and osteodystrophy of mucolipidosis types II and III.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

PMID 23192343 2013 Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

rs1429181351 in GNPTAB gene and Muscle hypotonia PMID 26749367 2016 Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

PMID 23192343 2013 Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

PMID 20367762 2010 The natural history and osteodystrophy of mucolipidosis types II and III.

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.