Variant information


Systematic Name
(NM_004992.3:)		 c.1012_1193del182
Protein name
(NP_004983)		 p.Thr338fs
Alternate systematic Name
(NM_001110792.1:)		 c.1048_1229del182
Alternate Protein name
(NP_001104262)		 p.(Thr350Profs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296086_153296267del182
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.1012_1193del182 p.Thr338fs Female Rett syndrome-Not certain 1907 ::: View details