Variant information


Systematic Name
(NM_004992.3:)		 c.377+266T>C
Protein name
(NP_004983)		 intronic variation
Alternate systematic Name
(NM_001110792.1:)		 c.413+266T>C
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297392A>G
Mutation type intronic variation
Domain intronic
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.377+266T>C intronic variation Female Not Rett synd. 4199 De novo MECP2 mutation in a 46,XX male patient with Rett patient:Maiwald, R., Bonte, A., Jung, H., Bitter, P., Storm, Z., Laccone, F., Herkenrath, P.:Neurogenetics: 12481990 View details