Variant information

Systematic Name c.1455_1456dupTA
Protein name p.Ser486fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Detection SSCP
Extent 90% coding region
Number of chromosomes checked 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :Khajuria, R.::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1455_1456dupTA p.Ser486fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3914 :Khajuria, R.::