Proband information


Proband id 4098
Systematic Name
(NM_004992.3:)
c.784C>T
Protein name
(NP_004983)
p.Gln262*
Alternate systematic Name
(NM_001110792.1:)
c.820C>T
Alternate Protein name
(NP_001104262)
p.(Gln274*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296495G>A
Mutation type nonsense
Domain TRD-NLS
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Known
Reference Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.784C>T p.Gln262* Female Rett syndrome-classical 3800 :Khajuria R, Genetics Unit, Dept. of Pedatrics, All India Institute of Medical Sciences::
2 c.784C>T p.Gln262* Female Not Known 4098 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578