Variant information


Systematic Name c.1104_1106del3
Protein name p.His372del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection
Extent
Evidence of Pathogenicity
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1104_1106del3 p.His372del In-frame insertion or deletion C-term Unknown Female Rett syndrome-Not certain 23 :Bunyan, D.::