Variant information


Systematic Name
(NM_004992.3:)		 c.[834C>T(;) 856_859delAAAG(;) 1180G>A]
Protein name
(NP_004983)		 p.[Ala278Ala(;) Lys286fs(;) Glu394Lys]
Alternate systematic Name
(NM_001110792.1:)		 c.[870C>T;892_895delAAAG;1216G>A]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296445G>A;153296420_153296423delCTTT;153296099C>T]
Mutation type silent, frameshift insertion or deletion, missense
Domain TRD, C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[834C>T(;) 856_859delAAAG(;) 1180G>A] p.[Ala278Ala(;) Lys286fs(;) Glu394Lys] Female Rett syndrome-classical 4397 :Khajuria, R.:: View details