Proband information
Proband id | 865 |
---|---|
Systematic Name (NM_004992.3:) |
c.291C>A |
Protein name (NP_004983) |
p.Asp97Glu |
Alternate systematic Name (NM_001110792.1:) |
c.327C>A |
Alternate Protein name (NP_001104262) |
p.(Asp109Glu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297744G>T |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | |
Extent | Exons 2-4 |
Source of DNA | blood |
Carrier | NC |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Unknown |
Sporadic/Familial | Not known |
Phenotype-class | Rett syndrome-Not certain |
Reference | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.291C>A | p.Asp97Glu | Unknown | Rett syndrome-Not certain | 865 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | |
2 | c.291C>A | p.Asp97Glu | Female | Rett syndrome-not certain | 3083 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |