Proband information

Proband id 2106
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Nonsense
Domain 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-Classical
Reference :Cardiff, UK::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1087A>T p.Lys363* Female Not Known 1717 :Friez, Michael::
2 c.1087A>T p.Lys363* Female Rett syndrome-Classical 2106 :Cardiff, UK::