Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315475
rs74315475
ARSA
A 0.700 GeneticVariation CLINVAR Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A. 23581857

2014
dbSNP: rs74315475
rs74315475
ARSA
A 0.700 GeneticVariation CLINVAR Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles. 20339381

2010
dbSNP: rs74315475
rs74315475
ARSA
A 0.700 GeneticVariation CLINVAR Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960

2003
dbSNP: rs74315475
rs74315475
ARSA
A 0.700 GeneticVariation CLINVAR Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. 10381328

1999
dbSNP: rs74315475
rs74315475
ARSA
A 0.700 CausalMutation CLINVAR Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. 8723680

1996
dbSNP: rs74315475
rs74315475
ARSA
A 0.700 GeneticVariation CLINVAR Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. 8723680

1996
dbSNP: rs74315475
rs74315475
ARSA
A 0.700 GeneticVariation CLINVAR Molecular genetics of metachromatic leukodystrophy. 7866401

1994