Variant information


Systematic Name
(NM_004992.3:)		 c.1128_1179del52
Protein name
(NP_004983)		 p.Lys377fs
Alternate systematic Name
(NM_001110792.1:)		 c.1164_1215del52
Alternate Protein name
(NP_001104262)		 p.(Lys389Argfs*15)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296100_153296151del52
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.1128_1179del52 p.Lys377fs Female Not Known 4106 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