3-M syndrome 1
OMIM:273750Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | CUL7 |
|---|---|
| DNA Change | IVS4-4_?1delCCAG |
| A.A. Change | |
| Exon/Intron | intron 4 |
| Mutation Type | deletion |
| Reference | Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, et al,Identification of mutations in CUL7 in 3-M syndrome. Nat Genet. 2005 Oct;37(10):1119-24. |
| Gene Symbol | CUL7 |
|---|---|
| Reference transcript | NM_014780.4 |
| DNA Change | c.1234_1235delCG |
| A.A. Change | p.Val412IlefsX21 |
| Exon/Intron | exon 5 |
| Mutation Type | deletion |
| Reference | Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, et al,Identification of mutations in CUL7 in 3-M syndrome. Nat Genet. 2005 Oct;37(10):1119-24. |
| Gene Symbol | CUL7 |
|---|---|
| Reference transcript | NM_014780.4 |
| DNA Change | c.3136delC |
| A.A. Change | p.Leu1046TrpfsX94 |
| Exon/Intron | exon 16 |
| Mutation Type | deletion |
| Reference | Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, et al,Identification of mutations in CUL7 in 3-M syndrome. Nat Genet. 2005 Oct;37(10):1119-24. |
Variant not named according to HGVS recommendations