Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.439G>A p.Asp147Asn Female 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 View details