Variant information


Systematic Name
(NM_004992.3:)
c.1455_1456dupTA
Protein name
(NP_004983)
p.Ser486fs
Alternate systematic Name
(NM_001110792.1:)
c.1491_1492dupTA
Alternate Protein name
(NP_001104262)
p.(Ser498Ilefs*27)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295823_153295824dupTA
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.1455_1456dupTA p.Ser486fs Female Rett syndrome-classical 3914 :Khajuria, R.:: View details