Proband information

Proband id 1721
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1324_1364del41 p.Thr442fs Female Not Known 1721 :Friez, Michael::
2 c.1324_1364del41 p.Thr442fs Female Rett syndrome-classical 6644 :::