Variant information


Systematic Name
(NM_004992.3:)		 c.1162_1163delCC
Protein name
(NP_004983)		 p.Pro388fs
Alternate systematic Name
(NM_001110792.1:)		 c.1198_1199delCC
Alternate Protein name
(NP_001104262)		 p.(Pro400Thrfs*4)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296116_153296117delGG
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1162_1163delCC p.Pro388fs Female Not Known 4107 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