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rs1065757

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1065757(A;A)
Make rs1065757(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position78885654
GeneARSB
is asnp
is mentioned by
dbSNPrs1065757
ebirs1065757
HLIrs1065757
Exacrs1065757
Varsomers1065757
Maprs1065757
PheGenIrs1065757
hapmaprs1065757
1000 genomesrs1065757
hgdprs1065757
ensemblrs1065757
gopubmedrs1065757
geneviewrs1065757
scholarrs1065757
googlers1065757
pharmgkbrs1065757
gwascentralrs1065757
openSNPrs1065757
23andMers1065757
23andMe allrs1065757
SNP Nexus

SNPshotrs1065757
SNPdbers1065757
MSV3drs1065757
GWAS Ctlgrs1065757
GMAF0.3398
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene ARSB
allele G
frequency 0.432
sift TOLERATED
HuRef 1103654141459
Disease Association Arylsulfatase B activity is defective in multiple sulfatase deficiency (MSD) (MIM:272200). MSD is a disorder characterized by decreased activity of all known sulfatases. MSD is due to defects in SUMF1 resulting in the lack of post- translational modification of a highly conserved cysteine into 3- oxoalanine. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.



GET Evidence
ARSB-V358M
aa_change Val358Met
aa_change_short V358M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.320041
summary



ClinVar
Risk rs1065757(A;A)
Alt rs1065757(A;A)
Reference rs1065757(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ARSB
CLNDBN not specified
Reversed 1
HGVS NC_000005.9:g.78181477C>T
CLNSRC HGMD
CLNACC RCV000077997.4,