Variant information

Systematic Name c.422dupA
Protein name p.Tyr141*
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information

Source of DNA blood
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations NA
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Known
Reference :Carson, Nancy::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.422dupA p.Tyr141* Frameshift insertion or deletion MBD Mutation associated with disease Female Not Known 1561 :Carson, Nancy::