HYAL1
hyaluronidase 1
Summary
This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants308 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1283 | 3:50,337,422 | A/G | — | benign |
| rs150976767 | 3:50,337,455 | C/T | — | uncertain significance |
| rs182987423 | 3:50,337,480 | G/A | — | uncertain significance |
| rs1702060462 | 3:50,337,581 | G/C | — | uncertain significance |
| rs192692460 | 3:50,337,693 | A/G | — | likely benign |
| rs184872974 | 3:50,337,741 | A/G | — | uncertain significance |
| rs903056291 | 3:50,337,808 | C/G | — | uncertain significance |
| rs1702077471 | 3:50,337,923 | G/A | — | likely benign |
| rs1553712372 | 3:50,337,924 | C/T | — | uncertain significance |
| rs368957453 | 3:50,337,930 | C/T | — | conflicting classifications of pathogenicity |
| rs782616691 | 3:50,337,931 | G/A | — | uncertain significance |
| rs147678727 | 3:50,337,932 | C/G | — | uncertain significance |
| rs782458470 | 3:50,337,934 | C/T | — | uncertain significance |
| rs782573040 | 3:50,337,941 | C/T | — | likely benign |
| rs782298295 | 3:50,337,942 | G/A | — | uncertain significance |
| rs142342237 | 3:50,337,945 | G/C | — | benign |
| rs2470842972 | 3:50,337,953 | G/T | — | likely benign |
| rs782661320 | 3:50,337,955 | C/T | — | uncertain significance |
| rs782812423 | 3:50,337,957 | G/C | — | likely benign |
| rs147470097 | 3:50,337,958 | G/T | — | uncertain significance |
| rs374011925 | 3:50,337,966 | C/T | — | uncertain significance |
| rs1702083003 | 3:50,337,977 | C/T | — | likely benign |
| rs1553712416 | 3:50,337,991 | G/A | — | uncertain significance |
| rs2470843165 | 3:50,337,992 | T/A | — | likely benign |
| rs2470843172 | 3:50,337,993 | G/T | — | uncertain significance |
| rs1702084252 | 3:50,338,010 | G/C | — | likely benign |
| rs1553712428 | 3:50,338,013 | G/A | — | likely benign |
| rs782734624 | 3:50,338,018 | C/G | — | uncertain significance |
| rs2109302089 | 3:50,338,019 | C/A | — | likely benign |
| rs781849333 | 3:50,338,020 | C/T | — | conflicting classifications of pathogenicity |
| rs202067357 | 3:50,338,021 | G/A | — | uncertain significance |
| rs989449756 | 3:50,338,024 | G/A | — | likely benign |
| rs1553712441 | 3:50,338,025 | G/A | — | likely benign |
| rs781878519 | 3:50,338,034 | C/A | — | likely benign |
| rs145487411 | 3:50,338,045 | G/C | — | uncertain significance |
| rs587680396 | 3:50,338,046 | C/T | — | conflicting classifications of pathogenicity |
| rs117179004 | 3:50,338,047 | G/A | — | benign |
| rs2109302277 | 3:50,338,049 | G/A | — | likely benign |
| rs782404568 | 3:50,338,063 | A/C | — | uncertain significance |
| rs781999703 | 3:50,338,066 | T/A | — | uncertain significance |
| rs1412523818 | 3:50,338,067 | G/A | — | likely benign |
| rs782110007 | 3:50,338,069 | C/G | — | uncertain significance |
| rs1259207908 | 3:50,338,076 | A/G | — | likely benign |
| rs782055404 | 3:50,338,084 | G/A | — | uncertain significance |
| rs1702091070 | 3:50,338,085 | G/A | — | likely benign |
| rs781894836 | 3:50,338,094 | G/A | — | likely benign |
| rs2470843783 | 3:50,338,097 | G/A | — | likely benign |
| rs587595632 | 3:50,338,110 | C/T | — | uncertain significance |
| rs782463178 | 3:50,338,111 | G/A | — | uncertain significance |
| rs1702094901 | 3:50,338,112 | G/T | — | likely benign |
| rs201665337 | 3:50,338,119 | C/T | — | uncertain significance |
| rs1702096627 | 3:50,338,124 | A/G | — | likely benign |
| rs782610786 | 3:50,338,130 | G/A | — | likely benign |
| rs1702097712 | 3:50,338,134 | C/G | — | uncertain significance |
| rs1702098144 | 3:50,338,138 | G/A | — | likely benign |
| rs2470844097 | 3:50,338,151 | G/A | — | likely benign |
| rs782200625 | 3:50,338,164 | C/T | — | uncertain significance |
| rs2470844153 | 3:50,338,166 | G/A | — | likely benign |
| rs782313821 | 3:50,338,171 | C/T | — | uncertain significance |
| rs148913295 | 3:50,338,172 | G/A | — | likely benign |
| rs782279681 | 3:50,338,175 | C/T | — | conflicting classifications of pathogenicity |
| rs372595265 | 3:50,338,178 | G/A | — | likely benign |
| rs377105091 | 3:50,338,181 | G/A | — | conflicting classifications of pathogenicity |
| rs2470844217 | 3:50,338,184 | G/C | — | likely benign |
| rs1239924466 | 3:50,338,192 | G/A | — | likely benign |
| rs2109302970 | 3:50,338,205 | A/G | — | likely benign |
| rs782799048 | 3:50,338,208 | C/T | — | likely benign |
| rs1269359820 | 3:50,338,217 | G/A | — | likely benign |
| rs1553712603 | 3:50,338,226 | T/G | — | likely benign |
| rs2470844486 | 3:50,338,236 | G/A | — | likely benign |
| rs782756651 | 3:50,338,237 | T/G | — | likely benign |
| rs781831071 | 3:50,338,239 | G/C | — | likely benign |
| rs2470844511 | 3:50,338,242 | A/T | — | likely benign |
| rs2470844543 | 3:50,338,251 | A/G | — | likely benign |
| rs782403254 | 3:50,338,400 | A/T | — | likely benign |
| rs1702128614 | 3:50,338,404 | C/T | — | likely benign |
| rs2470845951 | 3:50,338,407 | G/A | — | likely benign |
| rs368220900 | 3:50,338,422 | G/C | — | likely benign |
| rs146431309 | 3:50,338,428 | T/C | — | likely benign |
| rs978042622 | 3:50,338,440 | G/A | — | likely benign |
| rs1467161408 | 3:50,338,443 | C/T | — | likely benign |
| rs1553712742 | 3:50,338,451 | G/T | — | uncertain significance |
| rs2470846188 | 3:50,338,452 | C/T | — | likely benign |
| rs2109304145 | 3:50,338,455 | C/T | — | likely benign |
| rs1553712745 | 3:50,338,457 | C/T | — | uncertain significance |
| rs2109304251 | 3:50,338,472 | G/A | — | pathogenic |
| rs375213606 | 3:50,338,473 | G/A | — | likely benign |
| rs200373793 | 3:50,338,476 | C/T | — | likely benign |
| rs782551284 | 3:50,338,478 | C/T | — | uncertain significance |
| rs782200873 | 3:50,338,488 | C/T | — | likely benign |
| rs587687583 | 3:50,338,490 | G/A | — | likely benign |
| rs1290078379 | 3:50,338,494 | G/A | — | likely benign |
| rs1354541662 | 3:50,338,500 | C/T | — | likely benign |
| rs372594999 | 3:50,338,503 | C/T | — | likely benign |
| rs2470846672 | 3:50,338,515 | A/G | — | likely benign |
| rs1402365646 | 3:50,338,516 | G/T | — | likely benign |
| rs1450910661 | 3:50,338,521 | C/T | — | likely benign |
| rs1553712799 | 3:50,338,524 | C/T | — | likely benign |
| rs2109304533 | 3:50,338,528 | G/A | — | likely benign |
| rs587645819 | 3:50,339,353 | G/T | — | likely benign |
Showing 100 of 308 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.