Proband information

Proband id 6621
Systematic Name
c.[502C>T; 880C>T]
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type nonsense
Domain Inter-domain
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.[502C>T; 880C>T] p.Arg168* Female negative Rett syndrome-classical 6621 :::