ADAM30
ADAM metallopeptidase domain 30
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1395397908 | 1:120,436,631 | T/C | — | uncertain significance |
| rs2526053356 | 1:120,436,651 | T/C | — | uncertain significance |
| rs141525182 | 1:120,436,673 | T/C | — | uncertain significance |
| rs1648498743 | 1:120,436,703 | A/G | — | uncertain significance |
| rs776006983 | 1:120,436,790 | G/T | — | uncertain significance |
| rs529944099 | 1:120,436,835 | G/A | — | uncertain significance |
| rs151208318 | 1:120,436,909 | G/A | — | likely benign |
| rs587720885 | 1:120,437,011 | C/G | — | uncertain significance |
| rs760523161 | 1:120,437,070 | C/G | — | uncertain significance |
| rs1047372526 | 1:120,437,095 | T/A | — | uncertain significance |
| rs1227025931 | 1:120,437,186 | G/T | — | uncertain significance |
| rs896262197 | 1:120,437,188 | T/C | — | uncertain significance |
| rs2526055419 | 1:120,437,195 | T/C | — | uncertain significance |
| rs141980320 | 1:120,437,206 | A/G | — | uncertain significance |
| rs765121126 | 1:120,437,273 | C/T | — | likely benign |
| rs587635520 | 1:120,437,303 | T/C | — | uncertain significance |
| rs747868356 | 1:120,437,305 | G/A | — | uncertain significance |
| rs776179931 | 1:120,437,390 | C/T | — | uncertain significance |
| rs201129849 | 1:120,437,471 | T/C | — | uncertain significance |
| rs148305137 | 1:120,437,479 | C/A | — | uncertain significance |
| rs777403590 | 1:120,437,554 | T/C | — | uncertain significance |
| rs2526056873 | 1:120,437,600 | C/T | — | uncertain significance |
| rs145141310 | 1:120,437,688 | A/T | — | uncertain significance |
| rs2641348 | 1:120,437,884 | A/G | missense variant | — |
| rs917390514 | 1:120,437,914 | T/A | — | uncertain significance |
| rs202246434 | 1:120,437,977 | T/C | — | uncertain significance |
| rs751005187 | 1:120,438,031 | C/G | — | uncertain significance |
| rs753847620 | 1:120,438,136 | C/G | — | uncertain significance |
| rs371062982 | 1:120,438,170 | C/T | — | uncertain significance |
| rs187002434 | 1:120,438,302 | T/C | — | uncertain significance |
| rs776477537 | 1:120,438,305 | C/T | — | uncertain significance |
| rs587699560 | 1:120,438,317 | T/C | — | uncertain significance |
| rs767986095 | 1:120,438,362 | T/G | — | uncertain significance |
| rs1301406724 | 1:120,438,423 | T/C | — | uncertain significance |
| rs376100056 | 1:120,438,452 | G/C | — | uncertain significance |
| rs1648571130 | 1:120,438,534 | T/G | — | uncertain significance |
| rs377252026 | 1:120,438,550 | A/C | — | uncertain significance |
| rs777110616 | 1:120,438,584 | T/C | — | uncertain significance |
| rs1175736363 | 1:120,438,640 | G/T | — | uncertain significance |
| rs371282723 | 1:120,438,669 | C/T | — | likely benign |
| rs1339648380 | 1:120,438,724 | G/T | — | uncertain significance |
| rs2526062319 | 1:120,438,901 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.