Variant information


Systematic Name c.279C>T
Protein name p.Pro93Pro
Mutation type silent
Domain MBD
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.279C>T p.Pro93Pro silent MBD Silent polymorphism Female Rett syndrome-atypical 4080 :Khajuria, R.::