Proband information


Proband id 4898
Systematic Name
(NM_004992.3:)
c.1327G>A
Protein name
(NP_004983)
p.Ala443Thr
Alternate systematic Name
(NM_001110792.1:)
c.1363G>A
Alternate Protein name
(NP_001104262)
p.(Ala455Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295952C>T
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 son with developmental delay
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
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.1327G>A p.Ala443Thr Male in normal mother Not Rett synd. 4897 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.1327G>A p.Ala443Thr Female in son with developmental delay Not Rett synd. 4898 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