Proband information


Proband id 2455
Systematic Name
(NM_004992.3:)		 c.[502C>T(;)750C>A]
Protein name
(NP_004983)		 p.[Arg168*(;)Arg250Arg]
Alternate systematic Name
(NM_001110792.1:)		 c.[538C>T;786C>A]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296777G>A;153296529G>T]
Mutation type Nonsense, silent
Domain Inter-domain region, TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection Not known
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Researcher claims both variations de novo
Other mutations N
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(;)750C>A] p.[Arg168*(;)Arg250Arg] Female Researcher claims both variations de novo Rett syndrome-Classical 2455 :::