Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1327G>A p.Ala443Thr Male 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 View details
2 c.1327G>A p.Ala443Thr Female 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 View details