Proband information


Proband id 2225
Systematic Name
(NM_004992.3:)
c.[397C>T; 1164_1207del44]
Protein name
(NP_004983)
p.[Arg133Cys; Pro389*]
Alternate systematic Name
(NM_001110792.1:)
c.[433C>T;1200_1243del44]
Alternate Protein name
(NP_001104262)
p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.[153296882G>A;153296072_153296115del44]
Mutation type Missense, frameshift insertion or deletion
Domain MBD, 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-Atypical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[397C>T; 1164_1207del44] p.[Arg133Cys; Pro389*] Female Rett syndrome-Atypical 2225 :Cardiff, UK::