Variant information


Systematic Name
(NM_004992.3:)		 c.[984C>T; 1161_1163del]
Protein name
(NP_004983)		 p.[Leu328Leu; Pro391del]
Alternate systematic Name
(NM_001110792.1:)		 c.[1020C>T;1197_1199del]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296295G>A;153296116_153296118del]
Mutation type Silent, in-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Female Not Rett synd. 1567 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.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Female Not Rett synd. 1568 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
3 c.[984C>T; 1161_1163del] p.[Leu328Leu; Pro391del] Male Not Rett synd. 1569 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