Proband information


Proband id 1561
Systematic Name
(NM_004992.3:)		 c.422dupA
Protein name
(NP_004983)		 p.Tyr141*
Alternate systematic Name
(NM_001110792.1:)		 c.458dupA
Alternate Protein name
(NP_001104262)		 p.(Tyr153*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296857dupT
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent Exons 2-4
Source of DNA blood
Carrier NC
Carrier result
Other mutations NA
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Known
Reference :Carson, Nancy::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.422dupA p.Tyr141* Female Not Known 1561 :Carson, Nancy::