| GENE NAME | IFT172 |
| CHROMOSOME | 2 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000138002 |
| UNIPROT ACCESSION NUMBER | Q9UG01 |
| GO MOLECULAR FUNCTION | |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-162582; R-HSA-1852241; R-HSA-5358351; R-HSA-5610787; R-HSA-5617833; R-HSA-5620924 |
| 10 combinations linked to IFT172 | OLI1654; OLI1439; OLI1665; OLI1741; OLI1449; OLI1667; OLI685; OLI929; OLI1440; OLI928 |
| 10 variants linked to IFT172 | IFT172:p.Ala961Val; IFT172:c.3130C>T, p.Arg1044Ter; IFT172:c.1028C>G, p.Ser343Ter; IFT172:c.3073C>G, p.Pro1025Ala; IFT172:c.4363C>T, p.Arg1455Trp; IFT172:c.2015G>A, p.Arg672Gln; IFT172:c.3824G>T, p.Gly1275Val; IFT172:c.3808A>C, p.Lys1270Gln; IFT172:c.986C>T, p.Thr329Met; IFT172:c.2719G>A, p.Asp907Asn |
| 4 diseases linked to IFT172 | Congenital hydrocephalus; Holoprosencephaly; Transposition of the great arteries; Bardet-Biedl syndrome |