Variant information


Systematic Name c.881G>C
Protein name p.Arg294Pro
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection Direct sequencing or DHPLC
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.881G>C p.Arg294Pro Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1903 :::
2 c.881G>C p.Arg294Pro Missense TRD Polymorphism not causing disease Male Not Rett synd. 1904 :::