Proband information


Proband id 1202
Systematic Name
(NM_004992.3:)
c.898_1099del202
Protein name
(NP_004983)
p.Val300fs
Alternate systematic Name
(NM_001110792.1:)
c.934_1135del202
Alternate Protein name
(NP_001104262)
p.(Val312Thrfs*42)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296180_153296381del202
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection DGGE
Extent Exons 2-4
Source of DNA Blood
Carrier NC
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.898_1099del202 p.Val300fs Female Rett syndrome-Classical 1202 Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737