Variant information


Systematic Name
(NM_004992.3:)
c.484dupA
Protein name
(NP_004983)
p.Arg162fs
Alternate systematic Name
(NM_001110792.1:)
c.520dupA
Alternate Protein name
(NP_001104262)
p.(Arg174Lysfs*13)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296795dupT
Mutation type frameshift insertion or deletion
Domain inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.484dupA p.Arg162fs Female Rett syndrome-classical 4084 :Khajuria, R.:: View details