Proband information


Proband id 2050
Systematic Name
(NM_004992.3:)		 c.1163_1179del17
Protein name
(NP_004983)		 p.Pro388fs
Alternate systematic Name
(NM_001110792.1:)		 c.1199_1215del17
Alternate Protein name
(NP_001104262)		 p.(Pro400Argfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296100_153296116del17
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1163_1179del17 p.Pro388fs Female Not Known 2050 :::
2 c.1163_1179del17 p.Pro388fs Female Rett syndrome-not certain 3316 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