Proband information



Proband id 7032
Systematic Name c.427G>A
Protein name p.Glu143Lys
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Sanger sequencing
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.427G>A p.Glu143Lys missense MBD Mutation associated with disease Female Rett syndrome-classical 7032 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