AMELX
amelogenin X-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 this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5934996 | X:11,312,597 | A/T | — | benign |
| rs104894737 | X:11,312,910 | T/C | missense variant | pathogenic |
| rs104894738 | X:11,312,919 | G/C | missense variant | pathogenic |
| rs387906488 | X:11,312,922 | — | — | pathogenic |
| rs2518744193 | X:11,312,955 | C/A | — | likely pathogenic |
| rs946252 | X:11,313,027 | T/C | — | benign |
| rs17878486 | X:11,313,948 | T/G | — | — |
| rs5979395 | X:11,314,634 | G/A | — | benign |
| rs746714110 | X:11,316,245 | A/G | — | uncertain significance |
| rs104894733 | X:11,316,363 | C/T | missense variant | pathogenic |
| rs1274662505 | X:11,316,379 | C/T | — | likely benign |
| rs431825176 | X:11,316,382 | G/C | — | not provided |
| rs431825177 | X:11,316,384 | G/A | — | not provided |
| rs431825178 | X:11,316,385 | C/A | — | not provided |
| rs1603038203 | X:11,316,405 | G/C | — | likely benign |
| rs104894736 | X:11,316,689 | C/A | missense variant | pathogenic |
| rs761996476 | X:11,316,693 | T/C | — | uncertain significance |
| rs765687165 | X:11,316,694 | G/A | — | uncertain significance |
| rs2106416 | X:11,316,742 | C/T | — | benign |
| rs142884100 | X:11,316,748 | G/A | — | likely benign |
| rs765306052 | X:11,316,802 | C/T | — | likely benign |
| rs373800800 | X:11,316,803 | G/A | — | uncertain significance |
| rs2147573600 | X:11,316,812 | C/T | — | likely pathogenic |
| rs367556910 | X:11,316,830 | G/A | — | uncertain significance |
| rs756968232 | X:11,316,859 | C/A | — | benign |
| rs147013110 | X:11,316,889 | C/T | — | likely benign |
| rs753460403 | X:11,316,942 | T/G | — | uncertain significance |
| rs138249749 | X:11,316,959 | G/T | — | benign |
| rs372332800 | X:11,316,980 | C/A | — | uncertain significance |
| rs143860203 | X:11,316,997 | G/A | — | benign |
| rs104894734 | X:11,317,052 | G/T | stop gained | pathogenic |
| rs139757230 | X:11,317,062 | C/A | — | likely benign |
| rs779785692 | X:11,317,093 | G/C | — | benign |
| rs6530435 | X:11,317,251 | G/A | — | benign |
| rs6654939 | X:11,317,548 | C/T | intron variant | — |
| rs7052450 | X:11,318,948 | T/C | — | benign |
| rs149536248 | X:11,320,892 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.