Proband information
Proband id | 3876 |
---|---|
Systematic Name (NM_004992.3:) |
c.1373G>A |
Protein name (NP_004983) |
p.Arg458His |
Alternate systematic Name (NM_001110792.1:) |
c.1409G>A |
Alternate Protein name (NP_001104262) |
p.(Arg470His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295906C>T |
Mutation type | missense |
Domain | c-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | not certain |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | Two sisters with Rett syndrome and non-identical paternally-derived microdeltions in the MECP2 gene:Rosser, L.G., McKee, S., Millar D.S., Archer, H., Hughes, J., Butler, R., Chuzhanova, N., Cooper, D.N., Lazarou, L.P.:Genomic Med: 18810657 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1373G>A | p.Arg458His | Male | Not Rett synd. | 3876 | Two sisters with Rett syndrome and non-identical paternally-derived microdeltions in the MECP2 gene:Rosser, L.G., McKee, S., Millar D.S., Archer, H., Hughes, J., Butler, R., Chuzhanova, N., Cooper, D.N., Lazarou, L.P.:Genomic Med: 18810657 | |
2 | c.1373G>A | p.(Arg458His) | Male | Mother asymptomatic carrier | Not Rett synd. | 6999 | 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 |