Proband information


Proband id 1620
Systematic Name
(NM_004992.3:)		 c.898_904del7
Protein name
(NP_004983)		 p.Val300fs
Alternate systematic Name
(NM_001110792.1:)		 c.934_940del7
Alternate Protein name
(NP_001104262)		 p.(Val312Profs*19)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296375_153296381del7
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Not certain
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.898_904del7 p.Val300fs Female Rett syndrome-Not certain 1620 :Bunyan, D.::