Proband information


Proband id 7027
Systematic Name
(NM_004992.3:)		 c.717del C
Protein name
(NP_004983)		 p.Thr240Profs*8
Alternate systematic Name
(NM_001110792.1:)		 c.753delC
Alternate Protein name
(NP_001104262)		 p.(Thr252Profs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296562delG
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Direct
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 Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.717del C p.Thr240Profs*8 Female Rett syndrome-classical 7027 Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome:Huong Le Thi Thanh , Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh:BMC Medical Genetics: 30081849