Variant information


Systematic Name
(NM_004992.3:)		 c.27-?_(378_1461)del
Protein name
(NP_004983)		 p.Arg9fs
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
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.27-?_(378_1461)del p.Arg9fs Female Rett syndrome-Classical 2081 :Cardiff, UK:: View details
2 c.27-?_(378_1461)del p.Arg9fs Female Rett syndrome-Classical 2082 :Cardiff, UK:: View details