Proband information


Proband id 4881
Systematic Name
(NM_004992.3:)		 c.898G>A
Protein name
(NP_004983)		 p.Val300Ile
Alternate systematic Name
(NM_001110792.1:)		 c.934G>A
Alternate Protein name
(NP_001104262)		 p.(Val312Ile)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296381C>T
Mutation type missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result in daughter with autism but not in son with autism
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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.898G>A p.Val300Ile Female Neither parent has variation Rett syndrome-Classical 1400 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
2 c.898G>A p.Val300Ile Female in phenotypically normal mother and not in brother with autism Not Rett synd. 4880 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
3 c.898G>A p.Val300Ile Female in daughter with autism but not in son with autism Not Rett synd. 4881 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