Proband information


Proband id 2906
Systematic Name
(NM_004992.3:)		 c.[27-5690_1208del7628ins42];[439G>A]
Protein name
(NP_004983)		 p.[Arg9fs];[Asp147Asn]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type frameshift combined insertion and deletion, missense
Domain N-term, MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Southern blot analysis and semi-quantitative PCR
Extent exons 3 and 4
Source of DNA not known
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[27-5690_1208del7628ins42];[439G>A] p.[Arg9fs];[Asp147Asn] Female Rett syndrome-classical 2906 Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251