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 |