Proband information


Proband id 4895
Systematic Name
(NM_004992.3:)
c.1151C>T
Protein name
(NP_004983)
p.Pro384Leu
Alternate systematic Name
(NM_001110792.1:)
c.1187C>T
Alternate Protein name
(NP_001104262)
p.(Pro396Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296128G>A
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result in daughter with mental retardation but not in affected brother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-
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.1151C>T p.Pro384Leu Female in mother with psychiatric disorder but not in brother with regression Not Rett synd. 4894 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
2 c.1151C>T p.Pro384Leu Female in daughter with mental retardation but not in affected brother Not Rett synd. 4895 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.1151C>T p.Pro384Leu Female de novo Not Rett synd. 4896 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