Proband information


Proband id 6667
Systematic Name
(NM_004992.3:)		 c.753_754dup
Protein name
(NP_004983)		 p.Gly252fs
Alternate systematic Name
(NM_001110792.1:)		 c.789_790dup
Alternate Protein name
(NP_001104262)		 p.(Gly264Alafs*38)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296525_153296526dup
Mutation type frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.753_754dup p.Gly252fs Female Rett syndrome-classical 6667 :::