Variant information


Systematic Name
(NM_004992.3:)		 c.126dupG
Protein name
(NP_004983)		 p.His43fs
Alternate systematic Name
(NM_001110792.1:)		 c.162dupG
Alternate Protein name
(NP_001104262)		 p.(His55Alafs*2)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297909dupC
Mutation type Frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.126dupG p.His43fs Female Rett syndrome-Atypical 2100 :Cardiff, UK:: View details