Variant information


Systematic Name c.274G>T
Protein name p.Gly92*
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent 90% coding sequence of MECP2
Number of chromosomes checked 50 chromosomes tested and not found in 50 chromosomes
Carrier status checked Yes
Carrier result negative
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.274G>T p.Gly92* nonsense MBD Mutation associated with disease Female Rett syndrome-classical 4396 :Khajuria, R.::