ARSB
arylsulfatase B
Summary
Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
Known Variants725 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16875887 | 5:78,073,025 | T/C | — | likely benign |
| rs11750774 | 5:78,073,039 | A/C | — | uncertain significance |
| rs886060777 | 5:78,073,046 | A/C | — | uncertain significance |
| rs886060778 | 5:78,073,057 | A/G | — | uncertain significance |
| rs886060779 | 5:78,073,068 | T/C | — | uncertain significance |
| rs1425606069 | 5:78,073,073 | C/T | — | uncertain significance |
| rs560253823 | 5:78,073,173 | A/G | — | uncertain significance |
| rs3088247 | 5:78,073,245 | A/C | — | benign |
| rs116826065 | 5:78,073,361 | A/G | — | benign |
| rs1225906488 | 5:78,073,389 | A/T | — | uncertain significance |
| rs1390008938 | 5:78,073,436 | G/T | — | uncertain significance |
| rs141667208 | 5:78,073,512 | C/T | — | uncertain significance |
| rs183918206 | 5:78,073,513 | G/A | — | uncertain significance |
| rs188859845 | 5:78,073,536 | C/T | — | uncertain significance |
| rs1043901041 | 5:78,073,540 | G/A | — | uncertain significance |
| rs886060780 | 5:78,073,548 | T/C | — | uncertain significance |
| rs147170505 | 5:78,073,566 | T/C | — | benign |
| rs569254528 | 5:78,073,612 | C/T | — | uncertain significance |
| rs1748811214 | 5:78,073,627 | A/C | — | uncertain significance |
| rs548093605 | 5:78,073,642 | T/A | — | uncertain significance |
| rs963944156 | 5:78,073,649 | T/C | — | uncertain significance |
| rs975658724 | 5:78,073,661 | C/T | — | uncertain significance |
| rs1174387311 | 5:78,073,694 | A/T | — | uncertain significance |
| rs867923783 | 5:78,073,695 | T/A | — | uncertain significance |
| rs868066675 | 5:78,073,696 | T/A | — | uncertain significance |
| rs13354324 | 5:78,073,812 | T/C | — | conflicting classifications of pathogenicity |
| rs886060782 | 5:78,073,933 | G/A | — | uncertain significance |
| rs532513960 | 5:78,073,969 | C/T | — | uncertain significance |
| rs145585943 | 5:78,073,977 | T/C | — | likely benign |
| rs950647700 | 5:78,074,056 | A/T | — | uncertain significance |
| rs1463642631 | 5:78,074,062 | G/A | — | uncertain significance |
| rs1748825888 | 5:78,074,065 | G/A | — | uncertain significance |
| rs1748827572 | 5:78,074,128 | T/A | — | uncertain significance |
| rs886060783 | 5:78,074,140 | C/T | — | uncertain significance |
| rs7704939 | 5:78,074,198 | C/A | — | benign |
| rs113059935 | 5:78,074,207 | C/T | — | uncertain significance |
| rs878926507 | 5:78,074,231 | G/A | — | uncertain significance |
| rs149854678 | 5:78,074,269 | T/C | — | uncertain significance |
| rs35597782 | 5:78,074,585 | C/T | — | conflicting classifications of pathogenicity |
| rs867100156 | 5:78,074,610 | C/T | — | uncertain significance |
| rs188998831 | 5:78,074,626 | G/T | — | uncertain significance |
| rs886060786 | 5:78,074,707 | G/A | — | uncertain significance |
| rs886060787 | 5:78,074,721 | G/C | — | uncertain significance |
| rs55710452 | 5:78,074,751 | A/G | — | benign |
| rs79166190 | 5:78,074,800 | C/T | — | uncertain significance |
| rs555581069 | 5:78,074,833 | G/A | — | uncertain significance |
| rs146584784 | 5:78,074,847 | T/C | — | uncertain significance |
| rs886060788 | 5:78,074,860 | A/T | — | uncertain significance |
| rs974942925 | 5:78,074,894 | C/A | — | uncertain significance |
| rs754566 | 5:78,074,918 | C/A | — | benign |
| rs886060789 | 5:78,074,934 | G/A | — | uncertain significance |
| rs886060790 | 5:78,074,944 | G/C | — | uncertain significance |
| rs754567 | 5:78,074,963 | G/T | — | benign |
| rs886060791 | 5:78,075,051 | A/G | — | uncertain significance |
| rs116753785 | 5:78,075,067 | G/T | — | uncertain significance |
| rs886060792 | 5:78,075,073 | C/T | — | uncertain significance |
| rs141001994 | 5:78,075,074 | C/T | — | uncertain significance |
| rs190632756 | 5:78,075,226 | G/T | — | uncertain significance |
| rs886060793 | 5:78,075,230 | G/A | — | uncertain significance |
| rs144818735 | 5:78,075,255 | T/C | — | uncertain significance |
| rs924998163 | 5:78,075,287 | G/A | — | uncertain significance |
| rs201284766 | 5:78,075,298 | G/A | — | uncertain significance |
| rs777160780 | 5:78,075,410 | G/A | — | uncertain significance |
| rs886060794 | 5:78,075,427 | A/T | — | uncertain significance |
| rs534480571 | 5:78,075,585 | G/C | — | uncertain significance |
| rs886060795 | 5:78,075,601 | C/A | — | uncertain significance |
| rs757857543 | 5:78,075,602 | G/A | — | uncertain significance |
| rs886060796 | 5:78,075,612 | C/T | — | uncertain significance |
| rs1748876744 | 5:78,075,800 | T/C | — | uncertain significance |
| rs970465323 | 5:78,075,836 | A/T | — | uncertain significance |
| rs1234619423 | 5:78,075,880 | T/G | — | uncertain significance |
| rs561718720 | 5:78,076,008 | T/C | — | uncertain significance |
| rs73770019 | 5:78,076,018 | T/C | — | benign |
| rs181321349 | 5:78,076,054 | C/T | — | uncertain significance |
| rs2173012 | 5:78,076,160 | T/C | — | likely benign |
| rs1554069655 | 5:78,076,221 | T/C | — | pathogenic |
| rs1554069657 | 5:78,076,222 | A/G | — | uncertain significance |
| rs2478818060 | 5:78,076,227 | C/T | — | uncertain significance |
| rs1554069659 | 5:78,076,230 | G/C | — | uncertain significance |
| rs1580960941 | 5:78,076,232 | G/T | — | likely benign |
| rs1028337311 | 5:78,076,238 | C/T | — | likely benign |
| rs2478818117 | 5:78,076,241 | C/G | — | likely benign |
| rs2112617006 | 5:78,076,244 | A/G | — | likely benign |
| rs2112617015 | 5:78,076,247 | G/T | — | likely benign |
| rs1554069661 | 5:78,076,260 | C/T | — | conflicting classifications of pathogenicity |
| rs750093168 | 5:78,076,262 | G/A | — | likely benign |
| rs889344708 | 5:78,076,263 | C/T | — | uncertain significance |
| rs755576984 | 5:78,076,264 | G/A | — | uncertain significance |
| rs1748890674 | 5:78,076,265 | G/A | — | likely benign |
| rs1233108073 | 5:78,076,268 | G/T | — | uncertain significance |
| rs1158401003 | 5:78,076,274 | T/G | — | likely benign |
| rs201234153 | 5:78,076,276 | C/T | — | uncertain significance |
| rs755550345 | 5:78,076,277 | A/C | — | likely benign |
| rs1251438062 | 5:78,076,283 | G/T | — | pathogenic |
| rs201928777 | 5:78,076,288 | C/T | — | uncertain significance |
| rs528157833 | 5:78,076,289 | G/A | — | conflicting classifications of pathogenicity |
| rs2112617107 | 5:78,076,292 | G/A | — | likely benign |
| rs1554069663 | 5:78,076,307 | G/A | — | uncertain significance |
| rs771113472 | 5:78,076,315 | G/A | — | pathogenic |
| rs2478818436 | 5:78,076,316 | T/C | — | likely benign |
Showing 100 of 725 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.