Proband information


Proband id 3082
Systematic Name
(NM_004992.3:)		 c.[=/473C>T];[473C>T]
Protein name
(NP_004983)		 p.[=/Thr158Met];[Thr158Met]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent coding region
Source of DNA blood and fibroblast
Carrier Y
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Homozygosity for MECP2 gene in a girl with classical Rett syndrome:Karall, D., Haberlandt, E., Scholl-Bürgi, S., Baumgartner, S., Naudó, M., Martorell, L.:European Journal of Medical Genetics: 17881312

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] Female de novo Rett syndrome-classical 3082 Homozygosity for MECP2 gene in a girl with classical Rett syndrome:Karall, D., Haberlandt, E., Scholl-Bürgi, S., Baumgartner, S., Naudó, M., Martorell, L.:European Journal of Medical Genetics: 17881312