CITED1
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1
Summary
This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139648368 | X:71,521,598 | G/A | — | uncertain significance |
| rs145731331 | X:71,521,669 | C/T | — | benign |
| rs757687357 | X:71,521,796 | G/A | — | uncertain significance |
| rs147699506 | X:71,521,800 | C/G | — | uncertain significance |
| rs774180523 | X:71,521,809 | C/T | — | uncertain significance |
| rs759637602 | X:71,521,893 | C/T | — | likely benign |
| rs2043294470 | X:71,521,979 | C/T | — | uncertain significance |
| rs778511318 | X:71,521,997 | T/C | — | uncertain significance |
| rs1383516253 | X:71,521,998 | T/A | — | uncertain significance |
| rs2519688821 | X:71,522,021 | A/G | — | uncertain significance |
| rs374590463 | X:71,522,671 | G/A | — | uncertain significance |
| rs768730756 | X:71,522,688 | A/C | — | uncertain significance |
| rs774466084 | X:71,522,692 | C/T | — | likely benign |
| rs368985442 | X:71,522,752 | C/T | — | likely benign |
| rs2368671 | X:71,523,650 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.