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