Proband information


Proband id 1279
Systematic Name
(NM_004992.3:)		 c.331A>G
Protein name
(NP_004983)		 p.Arg111Gly
Alternate systematic Name
(NM_001110792.1:)		 c.367A>G
Alternate Protein name
(NP_001104262)		 p.(Arg123Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297704T>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Mutation not carried by parents
Other mutations NK
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 Gender Carrier result Phenotype Proband id Reference
1 c.331A>G p.Arg111Gly Unknown Mutation not carried by parents Rett syndrome-Not certain 1279 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