Variant information

Systematic Name complex rearrangement
Protein name complex rearrangement
Mutation type Not known
Domain Not known
Pathogenicity Unknown

Proband information

Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 complex rearrangement complex rearrangement Not known Not known Unknown Female Rett syndrome-Classical 2070 :Cardiff, UK::