Proband information



Proband id 7001
Systematic Name c.441C > G
Protein name p.Asp147Glu
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection
Extent
Source of DNA blood
Carrier Y
Carrier result Mother asymptomatic carrier
Other mutations
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-x-linked mental retardation
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.441C > G p.Asp147Glu missense MBD Unknown 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
2 c.441C > G p.Asp147Glu missense MBD Unknown 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