Variant information


Systematic Name
(NM_004992.3:)		 c.869dupA
Protein name
(NP_004983)		 p.Ser291fs
Alternate systematic Name
(NM_001110792.1:)		 c.905dupA
Alternate Protein name
(NP_001104262)		 p.(Ser303Valfs*40)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296410dupT
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.869dupA p.Ser291fs Female Rett syndrome-classical 3912 :Khajuria, R.:: View details