Proband information


Proband id 6612
Systematic Name
(NM_004992.3:)
c.667A>T
Protein name
(NP_004983)
p.Lys223*
Alternate systematic Name
(NM_001110792.1:)
c.703A>T
Alternate Protein name
(NP_001104262)
p.(Lys235*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296612T>A
Mutation type nonsense
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.667A>T p.Lys223* Female Rett syndrome-classical 6612 :::