Variant information


Systematic Name c.517C>G
Protein name p.Pro173Ala
Mutation type Missense
Domain Inter-domain region
Pathogenicity Unknown

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 Y
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.517C>G p.Pro173Ala Missense Inter-domain region Unknown Unknown Rett syndrome-Not certain 1370 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840