Variant information


Systematic Name c.27-9A>G
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
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 c.27-9A>G intronic variation Intronic variation Intronic Unknown Female Rett syndrome-Classical 2101 :Cardiff, UK::