Proband information


Proband id 4044
Systematic Name
(NM_004992.3:)
c.439G>A
Protein name
(NP_004983)
p.Asp147Asn
Alternate systematic Name
(NM_001110792.1:)
c.475G>A
Alternate Protein name
(NP_001104262)
p.(Asp159Asn)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296840C>T
Mutation type missense
Domain MBD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result in daughter with RTT who has another mutation
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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.439G>A p.Asp147Asn Female in daughter with RTT who has another mutation Not Rett synd. 4044 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