Variant information


Systematic Name
(NM_004992.3:)		 c.1223_1265del43
Protein name
(NP_004983)		 p.Leu408fs
Alternate systematic Name
(NM_001110792.1:)		 c.1259_1301del43
Alternate Protein name
(NP_001104262)		 p.(Leu420Serfs*60)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296014_153296056del43
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.1223_1265del43 p.Leu408fs Female Rett syndrome-Atypical 2117 :Cardiff, UK:: View details