AMELY
amelogenin Y-linked
Summary
This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760519968 | Y:6,734,120 | C/T | — | uncertain significance |
| rs372696666 | Y:6,734,647 | G/A | — | — |
| rs2071394 | Y:6,736,154 | C/T | missense variant | — |
| rs35815655 | Y:6,736,443 | C/T | missense variant | — |
| rs34820858 | Y:6,736,812 | G/T | synonymous variant | — |
| rs34551924 | Y:6,740,704 | A/G | — | — |
| rs72617687 | Y:6,753,258 | T/C | — | — |
| rs113781025 | Y:6,753,342 | C/T | — | — |
| rs9785971 | Y:6,753,511 | A/G | — | — |
| rs9786139 | Y:6,753,519 | G/C | — | — |
| rs56244518 | Y:6,766,034 | T/G | — | — |
| rs112194431 | Y:6,768,265 | G/C | — | — |
| rs188681655 | Y:6,777,077 | T/C | — | — |
| rs112359018 | Y:6,777,810 | A/G | — | — |
| rs3860033 | Y:6,781,398 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.