Variant information


Systematic Name
(NM_004992.3:)		 c.[1202G>A];[1202G>A]
Protein name
(NP_004983)		 p.[Ser401Asn];[Ser401Asn]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1202G>A];[1202G>A] p.[Ser401Asn];[Ser401Asn] Female Not Rett synd. 2390 Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946 View details