Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 GeneticVariation CLINVAR Biochemical profiling to predict disease severity in metachromatic leukodystrophy. 19815439

2010
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 GeneticVariation CLINVAR Misfolded endoplasmic reticulum retained subunits cause degradation of wild-type subunits of arylsulfatase A heteromers. 20646068

2010
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR Biochemical profiling to predict disease severity in metachromatic leukodystrophy. 19815439

2010
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 GeneticVariation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133

2008
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. 16678723

2006
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. 8723680

1996
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 GeneticVariation CLINVAR Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. 8723680

1996
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 GeneticVariation CLINVAR Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. 7825603

1995
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. 7825603

1995
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. 7815434

1994
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 GeneticVariation CLINVAR Analysis of a further 29 MLD patients revealed the presence of five additional homozygotes for T274M. 8104633

1993
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR Analysis of a further 29 MLD patients revealed the presence of five additional homozygotes for T274M. 8104633

1993
dbSNP: rs74315472
rs74315472
ARSA
A 0.700 CausalMutation CLINVAR Structure of the arylsulfatase A gene. 1975241

1990