AMBN
ameloblastin
Summary
This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1364589262 | 4:71,458,091 | G/A | — | uncertain significance |
| rs2545307219 | 4:71,459,104 | G/A | — | likely pathogenic |
| rs1052039914 | 4:71,462,745 | T/C | — | likely benign |
| rs867402927 | 4:71,464,084 | G/C | — | uncertain significance |
| rs201505714 | 4:71,465,271 | G/A | — | uncertain significance |
| rs146148316 | 4:71,465,278 | C/G | — | uncertain significance |
| rs145190129 | 4:71,465,297 | G/T | — | benign |
| rs145763811 | 4:71,465,302 | G/T | — | benign |
| rs866630412 | 4:71,465,350 | A/G | — | uncertain significance |
| rs4694075 | 4:71,466,914 | C/T | intron variant | — |
| rs2545314412 | 4:71,467,133 | A/C | — | likely pathogenic |
| rs148944860 | 4:71,467,135 | T/C | — | uncertain significance |
| rs1055383957 | 4:71,467,328 | T/A | — | uncertain significance |
| rs372201499 | 4:71,467,369 | G/A | — | uncertain significance |
| rs374742197 | 4:71,468,332 | G/C | — | likely benign |
| rs146238585 | 4:71,468,340 | G/C | splice region variant | pathogenic |
| rs189846864 | 4:71,468,351 | T/C | — | likely benign |
| rs781082963 | 4:71,468,355 | T/A | — | uncertain significance |
| rs1737546453 | 4:71,468,357 | T/C | — | uncertain significance |
| rs772520773 | 4:71,468,359 | G/C | — | uncertain significance |
| rs200594154 | 4:71,468,388 | A/T | — | benign |
| rs752057018 | 4:71,468,514 | G/C | — | conflicting classifications of pathogenicity |
| rs2545315669 | 4:71,468,521 | G/T | — | uncertain significance |
| rs781728949 | 4:71,468,522 | G/A | — | uncertain significance |
| rs533043393 | 4:71,468,545 | G/A | — | uncertain significance |
| rs35266919 | 4:71,468,985 | A/G | — | benign |
| rs142755020 | 4:71,468,993 | G/A | — | uncertain significance |
| rs2109804254 | 4:71,469,139 | C/T | — | uncertain significance |
| rs766904083 | 4:71,469,149 | T/C | — | uncertain significance |
| rs376440889 | 4:71,469,180 | A/G | — | likely benign |
| rs7439186 | 4:71,469,604 | C/T | — | benign |
| rs146167261 | 4:71,471,905 | G/A | — | likely benign |
| rs866268583 | 4:71,471,941 | C/T | — | uncertain significance |
| rs369661101 | 4:71,471,964 | C/T | — | likely benign |
| rs113506649 | 4:71,471,985 | C/A | — | likely benign |
| rs747475472 | 4:71,472,025 | T/C | — | uncertain significance |
| rs1465997786 | 4:71,472,047 | G/A | — | uncertain significance |
| rs150017698 | 4:71,472,053 | A/C | — | likely benign |
| rs144905737 | 4:71,472,058 | G/A | — | uncertain significance |
| rs368861309 | 4:71,472,137 | T/G | — | uncertain significance |
| rs72654387 | 4:71,472,164 | T/C | — | benign |
| rs148041312 | 4:71,472,177 | G/A | — | benign |
| rs1737656497 | 4:71,472,217 | A/G | — | uncertain significance |
| rs116601725 | 4:71,472,234 | C/T | — | benign |
| rs76503327 | 4:71,472,235 | G/A | — | benign |
| rs770498002 | 4:71,472,262 | A/G | — | uncertain significance |
| rs747799656 | 4:71,472,277 | G/C | — | uncertain significance |
| rs201142712 | 4:71,472,408 | C/T | — | likely benign |
| rs7680880 | 4:71,472,426 | A/G | — | benign |
| rs764712520 | 4:71,472,427 | T/C | — | uncertain significance |
| rs1737666421 | 4:71,472,428 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.