Proband information

Proband id 2225
Systematic Name
c.[397C>T; 1164_1207del44]
Protein name
p.[Arg133Cys; Pro389*]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense, frameshift insertion or deletion
Domain MBD, C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
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 Gender Carrier result Phenotype Proband id Reference
1 c.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] Female Rett syndrome-Atypical 2225 :Cardiff, UK::