Variant information


Systematic Name c.1163_1216del54
Protein name p.Pro388_Pro405del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1163_1216del54 p.Pro388_Pro405del In-frame insertion or deletion C-term Unknown Unknown Rett syndrome-Not certain 919 :::