Proband information

Proband id 1839
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Neither parent has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.470dupT p.Thr158fs Female Neither parent has variation Rett syndrome-Not certain 1839 :Bunyan, D.::