Variant information


Systematic Name
(NM_004992.3:)		 c.755dupG
Protein name
(NP_004983)		 p.Arg253fs
Alternate systematic Name
(NM_001110792.1:)		 c.791dupG
Alternate Protein name
(NP_001104262)		 p.(Arg265Glnfs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296524dupC
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.755dupG p.Arg253fs Female Rett syndrome-classical 4103 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 View details
2 c.755dupG p.Arg253fs Male Rett syndrome-male variant 4104 Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 View details