Proband information


Proband id 2106
Systematic Name
(NM_004992.3:)
c.1087A>T
Protein name
(NP_004983)
p.Lys363*
Alternate systematic Name
(NM_001110792.1:)
c.1123A>T
Alternate Protein name
(NP_001104262)
p.(Lys375*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296192T>A
Mutation type Nonsense
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1087A>T p.Lys363* Female Not Known 1717 :Friez, Michael::
2 c.1087A>T p.Lys363* Female Rett syndrome-Classical 2106 :Cardiff, UK::