Variant information


Systematic Name c.249_250ins7
Protein name p.Arg84fs
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Female Not Known 1766 :Friez, Michael::