Proband information


Proband id 1203
Systematic Name
(NM_004992.3:)		 c.989_994delinsGCATCTTCTCCTCTTT
Protein name
(NP_004983)		 p.Glu330fs
Alternate systematic Name
(NM_001110792.1:)		 c.1025_1030delinsGCATCTTCTCCTCTTT
Alternate Protein name
(NP_001104262)		 p.(Glu342Glyfs*14)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296285_153296290delinsAAAGAGGAGAAGATGC
Mutation type Frameshift combined insertion and deletion
Domain C-term
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 Unknown
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.989_994delinsGCATCTTCTCCTCTTT p.Glu330fs Unknown Rett syndrome-Classical 1203 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