Variant information


Systematic Name c.[455C>G(;)683C>G]
Protein name p.[Pro152Arg(;)Thr228Ser]
Mutation type missense
Domain MBD, TRD
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.[455C>G(;)683C>G] p.[Pro152Arg(;)Thr228Ser] missense MBD, TRD Mutation associated with disease Female Rett syndrome-classical 3910 :Khajuria, R.::