Proband information


Proband id 1116
Systematic Name
(NM_004992.3:)		 c.[965_970del6; 1029dupG; 1138_1208del71]
Protein name
(NP_004983)		 p.[Pro322_Leu323del; Arg344fs]
Alternate systematic Name
(NM_001110792.1:)		 c.[1001_1006del6;1065dupG;1174_1244del71]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296309_153296314del6;153296250dupC;153296071_153296141del71]
Mutation type In-frame insertion or deletion, 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.[965_970del6; 1029dupG; 1138_1208del71] p.[Pro322_Leu323del; Arg344fs] Female Rett syndrome-Not certain 1116 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