Variant information


Systematic Name
(NM_004992.3:)		 c.1202G>A
Protein name
(NP_004983)		 p.Ser401Asn
Alternate systematic Name
(NM_001110792.1:)		 c.1238G>A
Alternate Protein name
(NP_001104262)		 p.(Ser413Asn)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296077C>T
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 p.Ser401Asn Male Not Rett synd. 2391 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
2 c.1202G>A p.Ser401Asn Female Not Rett synd. 2392 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
3 c.1202G>A p.Ser401Asn Female Not Rett synd. 2393 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
4 c.1202G>A p.Ser401Asn Female Not Rett synd. 2394 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