Variant information


Systematic Name
(NM_004992.3:)
c.1452_1453dup
Protein name
(NP_004983)
p.Val485fs
Alternate systematic Name
(NM_001110792.1:)
c.1488_1489dup
Alternate Protein name
(NP_001104262)
p.(Val497Glufs*28)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295826_153295827dup
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.1452_1453dup p.Val485fs Female Rett syndrome-classical 4392 :Khajuria, R.:: View details