CASC5
Gene name: kinetochore scaffold 1OMIM ID: 609173
Chromosome location: 15q15.1
Mutations
| Disease/Phenotype | Microcephaly 4, primary, autosomal recessive |
|---|---|
| Reference transcript | NM_144508.4 |
| DNA Change | c.6125G>A |
| A.A. Change | p.Met2041Ile |
| Exon/Intron | exon 18 |
| Mutation Type | substitution |
| Reference | Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M.
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386. Epub 2012 Sep 13. |