AFDN
afadin, adherens junction formation factor
Summary
This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62427660 | 6:168,243,241 | A/C | — | — |
| rs145808139 | 6:168,276,152 | G/A | — | uncertain significance |
| rs369829441 | 6:168,281,191 | C/T | — | likely benign |
| rs2340902 | 6:168,283,243 | A/G | intron variant | — |
| rs35140809 | 6:168,297,647 | A/G | — | uncertain significance |
| rs200915346 | 6:168,303,035 | T/C | — | uncertain significance |
| rs148916042 | 6:168,312,105 | A/G | — | uncertain significance |
| rs3213591 | 6:168,316,118 | T/A | — | — |
| rs1008456 | 6:168,321,534 | G/C | intron variant | — |
| rs759978772 | 6:168,323,623 | G/A | — | uncertain significance |
| rs3778663 | 6:168,329,060 | G/A | intron variant | — |
| rs958005 | 6:168,334,813 | G/C | intron variant | — |
| rs3800529 | 6:168,335,759 | G/T | — | — |
| rs9346514 | 6:168,339,648 | T/C | — | — |
| rs4708612 | 6:168,342,453 | G/A | intron variant | — |
| rs77984694 | 6:168,346,622 | G/A | intron variant | — |
| rs1795320123 | 6:168,347,509 | C/G | — | uncertain significance |
| rs1005085360 | 6:168,347,512 | A/G | — | uncertain significance |
| rs767904944 | 6:168,347,556 | T/A | — | uncertain significance |
| rs201857861 | 6:168,347,869 | T/C | — | — |
| rs144312007 | 6:168,348,981 | G/A | — | benign |
| rs140343865 | 6:168,350,735 | C/G | intron variant | — |
| rs757352258 | 6:168,351,966 | T/C | — | uncertain significance |
| rs62427711 | 6:168,352,261 | G/A | — | likely benign |
| rs565019407 | 6:168,352,439 | A/G | — | uncertain significance |
| rs2538904641 | 6:168,352,581 | A/C | — | uncertain significance |
| rs2340911 | 6:168,358,507 | T/C | regulatory region variant | — |
| rs374571865 | 6:168,363,180 | G/T | — | uncertain significance |
| rs377617992 | 6:168,366,529 | G/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.