IFT43
Gene name: intraflagellar transport 43 homolog (Chlamydomonas)OMIM ID: 614068
Chromosome location: 14q24.3
Mutations
| Disease/Phenotype | Sensenbrenner syndrome |
|---|---|
| Reference transcript | NM_052873.2 |
| DNA Change | c.1A>G |
| A.A. Change | p.MET1VAL |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390-5. |