Proband information


Proband id 7039
Systematic Name
(NM_004992.3:)		 c.1153_1190del
Protein name
(NP_004983)		 p.Pro385Glyfs*7
Alternate systematic Name
(NM_001110792.1:)		 c.1189_1226del38
Alternate Protein name
(NP_001104262)		 p.(Pro397Glyfs*7)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296089_153296126del38
Mutation type frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1153_1190del p.Pro385Glyfs*7 Female Rett syndrome-classical 7039 MECP2 mutation in a boy with severe apnea and sick sinus syndrome:Tsutomu Shioda ,Satoru Takahashi,Tadashi Kaname , Toyohiro Yamauchi, Tetsuya Fukuoka :Brain & Development: 29631775