Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. 27005423

2016
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT 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. 25592817

2015
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR 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. 25592817

2015
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Functional and structural impact of the most prevalent missense mutations in classic galactosemia. 25614870

2014
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR Functional and structural impact of the most prevalent missense mutations in classic galactosemia. 25614870

2014
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation BEFREE The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations. 22963887

2012
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications. 23022339

2012
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. 22461411

2012
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR Detection of common mutations in the GALT gene through ARMS. 22963887

2012
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR [Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population]. 19581158

2009
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia. 18956253

2008
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT 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). 17876724

2007
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Mutational spectrum of classical galactosaemia in Spain and Portugal. 17041746

2006
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Identification of novel mutations in classical galactosemia. 15841485

2005
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation BEFREE Two unusual genotypes were observed in 2 patients homozygous for the Duarte-2 N314D allele and heterozygous for a novel mutation (Q207X- N314D/N314D in a classic galactosemia and T23A- N314D/N314D in a Duarte-2 case). 11754113

2002
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation BEFREE Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2). 12521227

2002
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation BEFREE The Duarte galactosemia variant is caused by N314D. 11261429

2001
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. 11152465

2001
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation BEFREE In summary, galactosemia is a heterogeneous disorder at the molecular level, and mutation N314D, appears to be an ancient genetic variant of the GALT gene.Hum Mutat 15:206, 2000. 10649501

2000
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. 9222760

1997
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation BEFREE We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability. 9012409

1997
dbSNP: rs2070074
rs2070074
GALT
G 0.890 CausalMutation CLINVAR Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. 9222760

1997
dbSNP: rs2070074
rs2070074
GALT
0.890 GeneticVariation UNIPROT Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. 8741038

1996