region 17q21.31
Gene name:OMIM ID: 613533
Chromosome location: 17q21.31
Mutations
| Disease/Phenotype | Chromosome 17q21.31 duplication syndrome |
|---|---|
| DNA Change | 485kb duplication |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | duplication |
| Reference | Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M.A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet. 2007 Jul-Aug;50(4):256-63. |
Variant not named according to HGVS recommendations