Variant information


Systematic Name
(NM_004992.3:)		 c.755delG
Protein name
(NP_004983)		 p.Gly252fs
Alternate systematic Name
(NM_001110792.1:)		 c.791delG
Alternate Protein name
(NP_001104262)		 p.(Gly264Alafs*37)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296524delC
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.755delG p.Gly252fs Female Rett syndrome-atypical 1951 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 View details