Proband information


Proband id 429
Systematic Name
(NM_004992.3:)
c.1155_1200del46
Protein name
(NP_004983)
p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)
c.1191_1236del46
Alternate Protein name
(NP_001104262)
p.(Leu398Alafs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296079_153296124del46
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 80 chromosomes
Detection dhplc
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
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.1155_1200del46 p.Leu386fs Female Mother is not carrier Not Known 429 :::
2 c.1155_1200del46 p.Leu386fs Female Not Known 2021 :::
3 c.1155_1200del46 p.Leu386fs Female Rett syndrome-not certain 3293 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