Proband information


Proband id 1120
Systematic Name
(NM_004992.3:)		 c.[1163_1173del11; 1176_1193del18]
Protein name
(NP_004983)		 p.Pro388fs
Alternate systematic Name
(NM_001110792.1:)		 c.[1199_1209del11;1212_1229del18]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296106_153296116del11;153296086_153296103del18]
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier NC
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1163_1173del11; 1176_1193del18] p.Pro388fs Female Rett syndrome-Not certain 1120 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898