Proband information


Proband id 6998
Systematic Name
(NM_004992.3:)
c.[1164_1207 del(;)1231_1233delAGC ]
Protein name
(NP_004983)
p.[Pro389*(;)Ser411del]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296072_153296115del,g.153296046_153296048delGCT
Mutation type nonsense,frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
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.[1164_1207 del(;)1231_1233delAGC ] p.[Pro389*(;)Ser411del] Male Mother asymptomatic carrier Not Rett synd. 6998 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