C12orf43
chromosome 12 open reading frame 43
Summary
Predicted to be involved in Spemann organizer formation and negative regulation of Wnt signaling pathway. Predicted to be located in nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3751151 | 12:121,442,199 | T/A | synonymous variant | — |
| rs1169313 | 12:121,442,670 | T/A | — | — |
| rs577159438 | 12:121,442,860 | C/A | — | uncertain significance |
| rs1878023600 | 12:121,444,183 | G/A | — | uncertain significance |
| rs2257962 | 12:121,445,808 | T/C | intron variant | — |
| rs2264750 | 12:121,450,165 | C/A | — | — |
| rs73214144 | 12:121,450,881 | G/A | intron variant | — |
| rs755196838 | 12:121,454,264 | C/T | — | likely benign |
| rs145907582 | 12:121,454,268 | G/A | — | uncertain significance |
| rs2258287 | 12:121,454,313 | C/T | regulatory region variant | — |
| rs189396052 | 12:121,454,320 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.