Variant information


Systematic Name
(NM_004992.3:)		 c.1324_1364del41
Protein name
(NP_004983)		 p.Thr442fs
Alternate systematic Name
(NM_001110792.1:)		 c.1360_1400del41
Alternate Protein name
(NP_001104262)		 p.(Thr454Glyfs*31)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295915_153295955del41
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.1324_1364del41 p.Thr442fs Female Not Known 1721 :Friez, Michael:: View details
2 c.1324_1364del41 p.Thr442fs Female Rett syndrome-classical 6644 ::: View details