Variant information


Systematic Name c.427G>A
Protein name p.Glu143Lys
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA
Detection Sanger sequencing
Extent
Number of chromosomes checked
Carrier status checked
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 References
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