Variant information

Systematic Name c.795C>G
Protein name p.Pro265Pro
Mutation type silent
Domain TRD-NLS
Pathogenicity Silent polymorphism

Proband information

Source of DNA blood
Detection SSCP
Extent 90% coding sequence
Number of chromosomes checked 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
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.795C>G p.Pro265Pro silent TRD-NLS Silent polymorphism Female Rett syndrome-atypical 4085 :Khajuria, R.::