Variant information


Systematic Name
(NM_004992.3:)		 c.542C>T
Protein name
(NP_004983)		 p.Ala181Val
Alternate systematic Name
(NM_001110792.1:)		 c.578C>T
Alternate Protein name
(NP_001104262)		 p.(Ala193Val)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296737G>A
Mutation type Missense
Domain Inter-domain region
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.542C>T p.Ala181Val Male Not Rett synd. 1564 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 View details
2 c.542C>T p.Ala181Val Female Not Rett synd. 1565 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 View details