Proband information

Proband id 1852
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 DHPLC
Extent Exons 1-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected father 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.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.::