Proband information

Proband id 6675
Systematic Name
c.[1161_1166del6; 1180_1205del26]
Protein name
p.[Pro390_Pro391del; Glu394fs]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
Carrier result negative
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del; Glu394fs] Female negative Rett syndrome-classical 6675 :::