KIAA1279
Gene name:OMIM ID: 609367
Chromosome location: 10q22.1
Mutations
| Disease/Phenotype | Goldberg-Shprintzen megacolon Syndrome |
|---|---|
| Reference transcript | NM_015634.3 |
| DNA Change | c.268C>T |
| A.A. Change | p.Arg90Stop |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM.Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet. 2005 Jul;77(1):120-6. |