Variant information

Systematic Name c.[397C>T; 1164_1207del44]
Protein name p.[Arg133Cys; Pro389*]
Mutation type Missense, frameshift insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Atypical
Reference :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] Missense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-Atypical 2225 :Cardiff, UK::