Proband information


Proband id 6997
Systematic Name
(NM_004992.3:)
c.397C > T
Protein name
(NP_004983)
p.Arg133Cys
Alternate systematic Name
(NM_001110792.1:)
c.433C>T
Alternate Protein name
(NP_001104262)
p.(Arg145Cys)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296882G>A
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA blood
Carrier Y
Carrier result Mother carried same mutation
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Rett syndrome-classical
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.397C > T p.Arg133Cys Female Mother carried mutation but no symptoms,brother same mutation Rett syndrome-preserved speech 6994 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.397C > T p.Arg133Cys Male Mother carried mutation but no symptoms,sister same mutation Not Rett synd. 6995 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
3 c.397C > T p.Arg133Cys Female Mother carried same mutation Rett syndrome-classical 6997 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