Proband information

Proband id 1853
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease
Evidence of Pathogenicity
Detection Not known
Extent Not known
Source of DNA Blood
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Bunyan, D.::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.749G>A p.Arg250His Female Unaffected father has variation Rett syndrome-Not certain 1852 :Bunyan, D.::
2 c.749G>A p.Arg250His Male Relative of proband Not Rett synd. 1853 :Bunyan, D.::