Variant information

Systematic Name c.611_612delinsAG
Protein name p.Ser204*
Mutation type frameshift combined insertion and deletion
Domain Inter-domain region
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood
Detection DHPLC
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 Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.611_612delinsAG p.Ser204* frameshift combined insertion and deletion Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1873 :Bunyan, D.::