Proband information


Proband id 3343
Systematic Name
(NM_004992.3:)		 c.27-4722_*112delinsCACTTTGTG
Protein name
(NP_004983)		 p.Arg9fs
Alternate systematic Name
(NM_001110792.1:)		 c.63-4722_*112delinsCACTTTGTG
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295706_153302730delinsCACAAAGTG
Mutation type frameshift combined insertion and deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection gene dosage analysis
Extent exons 3 and 4
Source of DNA not known
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.27-4722_*112delinsCACTTTGTG p.Arg9fs Female Rett syndrome-not certain 3343 Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome:Laccone, F. Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D:Human Mutation: 14974082