Proband information


Proband id 266
Systematic Name
(NM_004992.3:)		 c.467A>G
Protein name
(NP_004983)		 p.Asp156Gly
Alternate systematic Name
(NM_001110792.1:)		 c.503A>G
Alternate Protein name
(NP_001104262)		 p.(Asp168Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296812T>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.467A>G p.Asp156Gly Female Neither parent is carrier 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 Unknown Mutation not carried by parents 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