Proband information

Proband id 1603
Systematic Name
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA] p.Pro376fs Female Rett syndrome-Not certain 1603 :Bunyan, D.::