Proband information


Proband id 7038
Systematic Name
(NM_004992.3:)		 c.799A>T
Protein name
(NP_004983)		 p.Lys267*
Alternate systematic Name
(NM_001110792.1:)		 c.835A>T
Alternate Protein name
(NP_001104262)		 p.(Lys279*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296480T>A
Mutation type nonsense
Domain TRD-NLS
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.799A>T p.Lys267* Female de novo Rett syndrome-classical 2889 MECP2 mutations in Serbian Rett syndrome patients:Djarmati, A., Dobricic, V., Kecmanovic, M., Marsh, P., Jancic-Stefanovic, J., Klein, C., Djuric, M., Romac, S.:Acta Neurol Scand: 17986102
2 c.799A>T p.Lys267* Female Rett syndrome-classical 7038 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