Variant information


Systematic Name
(NM_004992.3:)		 c.-143_-138dup
Protein name
(NP_004983)		 p.(=)
Alternate systematic Name
(NM_001110792.1:)		 c.18_23dup
Alternate Protein name
(NP_001104262)		 p.(Ala7_Ala8dup)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153363100_153363105dup
Mutation type In-frame insertion or deletion
Domain N-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.-143_-138dup p.(=) Female Rett syndrome-Atypical 2162 :Cardiff, UK:: View details
2 c.-143_-138dup p.(=) Female Rett syndrome-atypical 2758 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 View details
3 c.-143_-138dup p.(=) Female Rett syndrome-classical 2912 Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 View details
4 c.-143_-138dup p.(=) Female Not Rett synd. 3987 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352 View details
5 c.-143_-138dup p.(=) Female Not Known 5113 ::: View details
6 c.-143_-138dup p.(=) Male Not Rett synd. 5114 ::: View details