Proband information


Proband id 4805
Systematic Name
(NM_004992.3:)		 c.[602C>T(;) 1157_1197del41]
Protein name
(NP_004983)		 p.[Ala201Val(;) Leu386fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[638C>T;1193_1233del41]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296677G>A;153296082_153296122del41]
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result de novo
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome:Lee, E.Y., Chung, H-.J., Ki, C.-S., Yoo, J.-H., Choi, J.R.:Annals of Clinical & Laboratory Science: 21325263

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[602C>T(;) 1157_1197del41] p.[Ala201Val(;) Leu386fs] Female de novo Rett syndrome-atypical 4805 A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome:Lee, E.Y., Chung, H-.J., Ki, C.-S., Yoo, J.-H., Choi, J.R.:Annals of Clinical & Laboratory Science: 21325263