Proband information


Proband id 2088
Systematic Name
(NM_004992.3:)		 [c.897C>T (+) c.(378_1461)_(378_1461)del]
Protein name
(NP_004983)		 [p.Thr299Thr (+) p.(Asn126+Ser486)fs]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type Frameshift insertion or deletion
Domain Not known
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier Y
Carrier result Mother is carrier of silent polymorphism
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.897C>T (+) c.(378_1461)_(378_1461)del] [p.Thr299Thr (+) p.(Asn126+Ser486)fs] Female Mother is carrier of silent polymorphism Rett syndrome-Classical 2088 :Cardiff, UK::