Variant information


Systematic Name
(NM_004992.3:)		 c.441C > G
Protein name
(NP_004983)		 p.Asp147Glu
Alternate systematic Name
(NM_001110792.1:)		 c.477C>G
Alternate Protein name
(NP_001104262)		 p.(Asp159Glu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296838G>C
Mutation type missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.441C > G p.Asp147Glu Male Not Rett synd. 7000 Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482 View details
2 c.441C > G p.Asp147Glu Male Not Rett synd. 7001 Familial cases and male cases with MECP2 mutations:Qingping Zhang,Ying Zhao , Xinhua Bao,Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu:American Journal of Medical Genetics: 28394482 View details