Variant information


Systematic Name
(NM_004992.3:)		 c.427G>A
Protein name
(NP_004983)		 p.Glu143Lys
Alternate systematic Name
(NM_001110792.1:)		 c.463G>A
Alternate Protein name
(NP_001104262)		 p.(Glu155Lys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296852C>T
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.427G>A p.Glu143Lys 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 View details