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rs2071421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs2071421(A;G)
Make rs2071421(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625988
GeneARSA
is asnp
is mentioned by
dbSNPrs2071421
ebirs2071421
HLIrs2071421
Exacrs2071421
Varsomers2071421
Maprs2071421
PheGenIrs2071421
hapmaprs2071421
1000 genomesrs2071421
hgdprs2071421
ensemblrs2071421
gopubmedrs2071421
geneviewrs2071421
scholarrs2071421
googlers2071421
pharmgkbrs2071421
gwascentralrs2071421
openSNPrs2071421
23andMers2071421
23andMe allrs2071421
SNP Nexus

SNPshotrs2071421
SNPdbers2071421
MSV3drs2071421
GWAS Ctlgrs2071421
GMAF0.2094
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM607574
DescARYLSULFATASE A POLYMORPHISM
Variant0002
Relatedalso
Neighborrs28940895
Distance542
Neighborrs28940894
Distance283


ClinVar
Risk rs2071421(G;G)
Alt rs2071421(G;G)
Reference rs2071421(A;A)
Significance Pathogenic
Disease ARYLSULFATASE A POLYMORPHISM Metachromatic leukodystrophy not provided
Variation info
Gene ARSA
CLNDBN ARYLSULFATASE A POLYMORPHISM Metachromatic leukodystrophy not provided
Reversed 1
HGVS NC_000022.10:g.51064416T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003191.2, RCV000020310.1, RCV000078931.4,



[PMID 2574462OA-icon.png] Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.


[PMID 9402957] Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.


GET Evidence
ARSA-N350S
aa_change Asn350Ser
aa_change_short N350S
impact benign
qualified_impact Low clinical importance, benign
overall_frequency 0.183199
summary This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.