Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 CausalMutation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 CausalMutation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 GeneticVariation CLINVAR Biochemical profiling to predict disease severity in metachromatic leukodystrophy. 19815439

2010
dbSNP: rs74315473
rs74315473
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: rs74315473
rs74315473
ARSA
A 0.700 GeneticVariation CLINVAR ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. 17560502

2007
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 GeneticVariation CLINVAR Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. 16678723

2006
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 CausalMutation CLINVAR Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. 16678723

2006
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 CausalMutation CLINVAR Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. 12809637

2003
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 CausalMutation CLINVAR Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. 10477432

1999
dbSNP: rs74315473
rs74315473
ARSA
A 0.700 CausalMutation CLINVAR Molecular genetics of metachromatic leukodystrophy. 7866401

1994