Proband information


Proband id 7001
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
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 Gender Carrier result Phenotype Proband id Reference
1 c.441C > G p.Asp147Glu Male Mother asymptomatic carrier 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 Male Mother asymptomatic carrier 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