Proband information

Proband id 2070
Systematic Name
complex rearrangement
Protein name
complex rearrangement
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Not known
Domain Not known
Pathogenicity Unknown
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 complex rearrangement complex rearrangement Female Rett syndrome-Classical 2070 :Cardiff, UK::