Variant: rs2070074 

    present in Gene: GALT
    present in Chromosome: 9
    Position on Chromosome: 34649445
    Alleles of this Variant: A/G

rs2070074 in GALT gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2070074 in GALT gene and Classical galactosemia PMID 27005423 2016 Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

PMID 8112740 1994 On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

PMID 8499924 1993 Molecular characterization of the H319Q galactosemia mutation.

PMID 7887416 1995 Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

PMID 25614870 2014 Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

PMID 11152465 2001 Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase.

PMID 1897530 1991 Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

PMID 15841485 2005 Identification of novel mutations in classical galactosemia.

PMID 1373122 1992 Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

PMID 25592817 2015 Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

PMID 18956253 2008 Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 22461411 2012 Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

PMID 2011574 1991 Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

PMID 17041746 2006 Mutational spectrum of classical galactosaemia in Spain and Portugal.

PMID 22963887 2012 Detection of common mutations in the GALT gene through ARMS.

PMID 1427861 1992 The human galactose-1-phosphate uridyltransferase gene.

PMID 1610789 1992 Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 17876724 2007 Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).

PMID 19581158 2009 [Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population].

PMID 9222760 1997 Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

PMID 23022339 2012 Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

PMID 8741038 1996 Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

PMID 8198125 1994 A common mutation associated with the Duarte galactosemia allele.

PMID 8892021 1996 Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

PMID 8956044 1996 Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.