SUMF1
sulfatase modifying factor 1
Summary
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Known Variants588 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs931302 | 3:4,210,614 | T/C | intron variant | — |
| rs2587949 | 3:4,223,616 | C/G | intron variant | — |
| rs143660686 | 3:4,238,038 | C/T | intron variant | — |
| rs147614904 | 3:4,279,663 | T/G | intron variant | — |
| rs78295834 | 3:4,294,038 | A/G | — | — |
| rs146716025 | 3:4,310,615 | T/C | intron variant | — |
| rs187467850 | 3:4,322,862 | C/T | intron variant | — |
| rs115132609 | 3:4,336,274 | C/T | intron variant | — |
| rs111569960 | 3:4,364,679 | G/T | regulatory region variant | — |
| rs308739 | 3:4,376,030 | C/A | intron variant | — |
| rs151120160 | 3:4,402,846 | C/T | — | uncertain significance |
| rs886058510 | 3:4,402,852 | T/C | — | uncertain significance |
| rs571869267 | 3:4,402,875 | G/A | — | uncertain significance |
| rs575414528 | 3:4,402,879 | C/T | — | likely benign |
| rs141075396 | 3:4,402,880 | G/A | — | uncertain significance |
| rs116661242 | 3:4,402,911 | C/A | — | benign |
| rs145484019 | 3:4,402,954 | G/A | — | uncertain significance |
| rs140229372 | 3:4,402,992 | G/C | — | likely benign |
| rs145383154 | 3:4,403,000 | C/T | — | uncertain significance |
| rs184134840 | 3:4,403,007 | C/T | — | uncertain significance |
| rs137921931 | 3:4,403,008 | G/A | — | uncertain significance |
| rs886058511 | 3:4,403,009 | C/T | — | uncertain significance |
| rs886058512 | 3:4,403,019 | G/A | — | uncertain significance |
| rs79031951 | 3:4,403,023 | G/A | — | benign |
| rs886058513 | 3:4,403,136 | T/C | — | uncertain significance |
| rs14275 | 3:4,403,153 | T/G | — | benign |
| rs886058514 | 3:4,403,189 | A/G | — | uncertain significance |
| rs886058515 | 3:4,403,250 | G/C | — | uncertain significance |
| rs73022033 | 3:4,403,260 | C/T | — | uncertain significance |
| rs10514655 | 3:4,403,276 | A/C | — | benign |
| rs185598903 | 3:4,403,280 | A/G | — | uncertain significance |
| rs17040504 | 3:4,403,310 | A/G | — | benign |
| rs2259818 | 3:4,403,357 | A/C | — | benign |
| rs930735447 | 3:4,403,365 | C/A | — | uncertain significance |
| rs114640216 | 3:4,403,383 | T/C | — | likely benign |
| rs116909525 | 3:4,403,430 | G/A | — | benign |
| rs113056454 | 3:4,403,432 | G/C | — | likely benign |
| rs141387556 | 3:4,403,523 | G/C | — | uncertain significance |
| rs111257010 | 3:4,403,531 | G/A | — | uncertain significance |
| rs74979662 | 3:4,403,536 | A/T | — | likely benign |
| rs4685744 | 3:4,403,537 | T/C | — | benign |
| rs1699769914 | 3:4,403,549 | G/A | — | uncertain significance |
| rs532640038 | 3:4,403,610 | A/G | — | uncertain significance |
| rs2819562 | 3:4,403,614 | T/C | — | benign |
| rs115376966 | 3:4,403,618 | G/A | — | likely benign |
| rs116820538 | 3:4,403,639 | C/T | — | likely benign |
| rs560350613 | 3:4,403,676 | G/C | — | uncertain significance |
| rs185951165 | 3:4,403,678 | C/T | — | uncertain significance |
| rs189928088 | 3:4,403,688 | G/A | — | uncertain significance |
| rs1699776293 | 3:4,403,733 | G/A | — | uncertain significance |
| rs150796088 | 3:4,403,736 | T/C | — | likely benign |
| rs1699779739 | 3:4,403,761 | T/A | — | uncertain significance |
| rs2819561 | 3:4,403,767 | A/G | — | benign |
| rs2633851 | 3:4,403,817 | A/T | — | benign |
| rs35083095 | 3:4,403,818 | T/C | — | benign |
| rs2125175681 | 3:4,403,821 | T/C | — | likely benign |
| rs1254213543 | 3:4,403,829 | C/T | — | likely benign |
| rs2633852 | 3:4,403,837 | A/G | — | benign |
| rs2470777387 | 3:4,403,843 | C/A | — | likely benign |
| rs2125175808 | 3:4,403,846 | G/A | — | likely benign |
| rs926687493 | 3:4,403,847 | C/T | — | uncertain significance |
| rs147405528 | 3:4,403,848 | G/A | — | uncertain significance |
| rs781069134 | 3:4,403,851 | C/T | — | uncertain significance |
| rs372359337 | 3:4,403,852 | G/A | — | likely benign |
| rs1699785405 | 3:4,403,862 | C/T | — | uncertain significance |
| rs749318590 | 3:4,403,863 | G/A | — | uncertain significance |
| rs2470777643 | 3:4,403,866 | A/C | — | uncertain significance |
| rs759834654 | 3:4,403,870 | C/G | — | likely benign |
| rs140751492 | 3:4,403,876 | C/T | — | likely benign |
| rs137852844 | 3:4,403,877 | G/T | stop gained | pathogenic |
| rs913886404 | 3:4,403,879 | A/G | — | likely benign |
| rs754347396 | 3:4,403,881 | C/T | — | uncertain significance |
| rs1489482200 | 3:4,403,883 | G/T | — | uncertain significance |
| rs2470777906 | 3:4,403,885 | G/A | — | likely benign |
| rs2125176058 | 3:4,403,888 | A/G | — | likely benign |
| rs757841704 | 3:4,403,892 | G/A | — | uncertain significance |
| rs376126385 | 3:4,403,897 | G/C | — | uncertain significance |
| rs2470778118 | 3:4,403,906 | C/G | — | likely benign |
| rs137852847 | 3:4,403,907 | C/T | missense variant | pathogenic |
| rs137852846 | 3:4,403,908 | G/A | missense variant | pathogenic |
| rs137852853 | 3:4,403,911 | C/A | missense variant | pathogenic |
| rs755981501 | 3:4,403,914 | C/A | — | uncertain significance |
| rs1317999063 | 3:4,403,915 | A/G | — | likely benign |
| rs777799002 | 3:4,403,918 | G/A | — | likely benign |
| rs139267495 | 3:4,403,919 | C/T | — | conflicting classifications of pathogenicity |
| rs137852852 | 3:4,403,920 | G/A | missense variant | pathogenic |
| rs2470778338 | 3:4,403,924 | C/A | — | uncertain significance |
| rs2470778411 | 3:4,403,930 | A/T | — | pathogenic |
| rs745986003 | 3:4,403,931 | C/T | — | uncertain significance |
| rs1167385683 | 3:4,403,932 | A/C | — | uncertain significance |
| rs1228142441 | 3:4,403,933 | A/G | — | likely benign |
| rs2470778472 | 3:4,403,936 | A/C | — | likely benign |
| rs1699789348 | 3:4,403,942 | T/C | — | likely benign |
| rs772322962 | 3:4,403,943 | G/A | — | likely benign |
| rs368707139 | 3:4,403,944 | T/C | — | likely benign |
| rs886058517 | 3:4,403,946 | G/A | — | uncertain significance |
| rs1465413567 | 3:4,403,947 | A/G | — | likely benign |
| rs142980345 | 3:4,403,948 | G/C | — | likely benign |
| rs932798229 | 3:4,403,950 | G/C | — | likely benign |
| rs2470778665 | 3:4,403,951 | A/C | — | likely benign |
Showing 100 of 588 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.