Variant information


Systematic Name c.[609G>A(;)905C>T]
Protein name p.[Thr203Thr(;)Pro302Leu]
Mutation type Silent, missense
Domain Inter-domain region, TRD
Pathogenicity Unknown

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.[609G>A(;)905C>T] p.[Thr203Thr(;)Pro302Leu] Silent, missense Inter-domain region, TRD Unknown Female Rett syndrome-Not certain 1875 :Bunyan, D.::