Proband information


Proband id 2246
Systematic Name
(NM_004992.3:)		 c.[502C>T(;)897C>T]
Protein name
(NP_004983)		 p.[Arg168*(;)Thr299Thr]
Alternate systematic Name
(NM_001110792.1:)		 c.[538C>T;933C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296777G>A;153296382G>A]
Mutation type Nonsense, silent
Domain Inter-domain region, TRD
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.[502C>T(;)897C>T] p.[Arg168*(;)Thr299Thr] Female Rett syndrome-Classical 2246 :Cardiff, UK::