Variant information


Systematic Name
(NM_004992.3:)		 c.[880C>T(;)1430G>C]
Protein name
(NP_004983)		 p.[Arg294*(;)Ser477Thr]
Alternate systematic Name
(NM_001110792.1:)		 c.[916C>T;1466G>C]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296399G>A;153295849C>G]
Mutation type Nonsense
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[880C>T(;)1430G>C] p.[Arg294*(;)Ser477Thr] Female Rett syndrome-Atypical 396 ::: View details