Proband information


Proband id 6587
Systematic Name
(NM_004992.3:)
c.611C>A
Protein name
(NP_004983)
p.Ser204*
Alternate systematic Name
(NM_001110792.1:)
c.647C>A
Alternate Protein name
(NP_001104262)
p.(Ser216*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296668G>T
Mutation type nonsense
Domain inter-domain
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.611C>A p.Ser204* Female Rett syndrome-classical 6587 :::