Variant information


Systematic Name c.467A>G
Protein name p.Asp156Gly
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA
Detection
Extent
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent is carrier
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.467A>G p.Asp156Gly Missense MBD Unknown Female Rett syndrome-Not certain 266 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679
2 c.467A>G p.Asp156Gly Missense MBD Unknown Unknown Rett syndrome-Not certain 1292 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