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
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
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.::