Variant information


Systematic Name c.229_238del10
Protein name p.Ala77fs
Mutation type Frameshift insertion or deletion
Domain N-term
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.229_238del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Female Not Known 1713 :Friez, Michael::
2 c.229_238del10 p.Ala77fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 6640 :::