Proband information


Proband id 4890
Systematic Name
(NM_004992.3:)		 c.1028_1158del
Protein name
(NP_004983)		 p.Gly343Alafs*6
Alternate systematic Name
(NM_001110792.1:)		 c.1064_1194del
Alternate Protein name
(NP_001104262)		 p.(Gly355Alafs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296121_153296251del
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
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.1028_1158del p.Gly343Alafs*6 Female Rett syndrome-atypical 4890 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