Proband information


Proband id 3988
Systematic Name
(NM_004992.3:)		 c.[=/808delC]
Protein name
(NP_004983)		 p.[=/Arg270fs]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exon 4
Source of DNA blood
Carrier Y
Carrier result in two daughters with Rett syndrome
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Rett synd.-unaffected family member
Reference Germline mosaicism for a MECP2 mutation in a man with two Rett daughters:Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.:Clinical Genetics: 16965328

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[=/808delC] p.[=/Arg270fs] Male in two daughters with Rett syndrome Not Rett synd. 3988 Germline mosaicism for a MECP2 mutation in a man with two Rett daughters:Evans, J.C., Archer, H.L., Whatley, S.D., Clarke, A.:Clinical Genetics: 16965328