CRIPTO
cripto, EGF-CFC family member
Summary
This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6442005 | 3:46,618,760 | C/A | — | benign |
| rs80045772 | 3:46,619,238 | T/A | — | benign |
| rs113542669 | 3:46,619,532 | C/T | — | benign |
| rs55955974 | 3:46,619,554 | G/A | — | likely benign |
| rs56398705 | 3:46,619,615 | C/G | — | likely benign |
| rs56197743 | 3:46,619,773 | G/A | — | likely benign |
| rs6799088 | 3:46,620,274 | T/A | — | benign |
| rs73073734 | 3:46,620,518 | T/C | — | likely benign |
| rs79682649 | 3:46,620,562 | C/T | — | likely benign |
| rs1311886156 | 3:46,620,594 | G/T | — | uncertain significance |
| rs149392274 | 3:46,620,604 | A/T | — | likely benign |
| rs11130097 | 3:46,620,614 | C/T | — | benign |
| rs538573047 | 3:46,620,645 | A/G | — | likely benign |
| rs1215656011 | 3:46,620,748 | C/A | — | uncertain significance |
| rs771545884 | 3:46,620,755 | G/A | — | likely benign |
| rs2293025 | 3:46,620,760 | T/G | — | benign |
| rs759659226 | 3:46,620,775 | G/A | — | uncertain significance |
| rs2293024 | 3:46,620,801 | G/A | — | benign |
| rs202076790 | 3:46,620,812 | G/A | — | uncertain significance |
| rs138710229 | 3:46,620,818 | G/C | — | uncertain significance |
| rs2293023 | 3:46,620,899 | T/A | — | benign |
| rs77406377 | 3:46,620,961 | T/G | — | likely benign |
| rs2293022 | 3:46,621,057 | A/G | — | likely benign |
| rs2293021 | 3:46,621,117 | A/G | — | likely benign |
| rs9819070 | 3:46,621,123 | A/T | — | benign |
| rs2280414 | 3:46,621,215 | T/C | — | benign |
| rs779132302 | 3:46,621,297 | C/G | — | uncertain significance |
| rs147136611 | 3:46,621,299 | T/G | — | benign |
| rs554684465 | 3:46,621,312 | G/A | — | uncertain significance |
| rs148619685 | 3:46,621,330 | G/C | — | likely benign |
| rs34501971 | 3:46,621,336 | C/G | — | benign |
| rs142219504 | 3:46,621,354 | C/T | — | likely benign |
| rs150809256 | 3:46,621,433 | A/G | — | benign |
| rs13075468 | 3:46,621,450 | T/G | — | likely benign |
| rs757196291 | 3:46,621,462 | T/G | — | uncertain significance |
| rs760320801 | 3:46,621,527 | C/T | — | uncertain significance |
| rs192154393 | 3:46,621,653 | G/T | — | likely benign |
| rs2280413 | 3:46,621,793 | G/A | — | likely benign |
| rs6768139 | 3:46,622,457 | G/A | — | benign |
| rs181142338 | 3:46,622,626 | C/G | — | benign |
| rs112928637 | 3:46,622,629 | T/C | — | likely benign |
| rs143388946 | 3:46,622,685 | G/A | — | uncertain significance |
| rs759292430 | 3:46,622,736 | A/G | — | uncertain significance |
| rs146545269 | 3:46,622,946 | T/A | — | likely benign |
| rs111508675 | 3:46,622,992 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.