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rs743616

From SNPedia

Lysosomal Storage Disease May be neurodegenerative. May have low or reference range levels of arylsulfatase A in the serum, but sulfatide is not stored. Possible Multiple sulfatase deficiency
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs743616(C;C)
Make rs743616(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position50625611
GeneARSA
is asnp
is mentioned by
dbSNPrs743616
ebirs743616
HLIrs743616
Exacrs743616
Varsomers743616
Maprs743616
PheGenIrs743616
hapmaprs743616
1000 genomesrs743616
hgdprs743616
ensemblrs743616
gopubmedrs743616
geneviewrs743616
scholarrs743616
googlers743616
pharmgkbrs743616
gwascentralrs743616
openSNPrs743616
23andMers743616
23andMe allrs743616
SNP Nexus

SNPshotrs743616
SNPdbers743616
MSV3drs743616
GWAS Ctlgrs743616
GMAF0.4261
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene ARSA
allele C
frequency 0.433
sift TOLERATED
HuRef 1103691067563
Disease Association Arylsulfatase A 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.



Neighborrs28940895
Distance165
Neighborrs2071421
Distance377
OMIM250100
Desc
Variant
Relatedalso


ClinVar
Risk rs743616(C;C)
Alt rs743616(C;C)
Reference rs743616(G;G)
Significance Pathogenic
Disease Metachromatic leukodystrophy not specified
Variation info
Gene ARSA
CLNDBN Metachromatic leukodystrophy not specified
Reversed 0
HGVS NC_000022.10:g.51064039G>C
CLNSRC HGMD
CLNACC RCV000020311.1, RCV000078937.4,



[PMID 18454203OA-icon.png] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.


GET Evidence
ARSA-T391S
aa_change Thr391Ser
aa_change_short T391S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.481313
summary