Proband information


Proband id 6621
Systematic Name
(NM_004992.3:)
c.[502C>T; 880C>T]
Protein name
(NP_004983)
p.Arg168*
Alternate systematic Name
(NM_001110792.1:)
c.[538C>T;916C>T]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296777G>A;153296399G>A]
Mutation type nonsense
Domain Inter-domain
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent all exons
Source of DNA Blood
Carrier Y
Carrier result negative
Other mutations Y
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.[502C>T; 880C>T] p.Arg168* Female negative Rett syndrome-classical 6621 :::