Proband information


Proband id 208
Systematic Name
(NM_004992.3:)		 c.377+11G>C
Protein name
(NP_004983)		 intronic variation
Alternate systematic Name
(NM_001110792.1:)		 c.413+11G>C
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297647C>G
Mutation type Intronic variation
Domain Intronic
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection SSCP
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result No unaffected relatives found to have disease-causing mutations
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.377+11G>C intronic variation Female No unaffected relatives found to have disease-causing mutations Rett syndrome-Not certain 208 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689