Proband information


Proband id 4891
Systematic Name
(NM_004992.3:)		 c.1030C>T
Protein name
(NP_004983)		 p.Arg344Trp
Alternate systematic Name
(NM_001110792.1:)		 c.1066C>T
Alternate Protein name
(NP_001104262)		 p.(Arg356Trp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296249G>A
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1030C>T p.Arg344Trp Male Unaffected mother is carrier Rett syndrome-Not certain 1532 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600
2 c.1030C>T p.Arg344Trp Female Relative of proband Not Rett synd. 1533 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600
3 c.1030C>T p.Arg344Trp Female Rett syndrome-atypical 4891 Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191