Proband information


Proband id 1824
Systematic Name
(NM_004992.3:)		 c.1265_1289del25insAGCGGCCG
Protein name
(NP_004983)		 p.Gly422fs
Alternate systematic Name
(NM_001110792.1:)		 c.1301_1325delinsAGCGGCCG
Alternate Protein name
(NP_001104262)		 p.(Gly434Glufs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295990_153296014delinsCGGCCGCT
Mutation type Frameshift combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DHPLC
Extent Exons 2-4
Source of DNA Blood
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
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.1265_1289del25insAGCGGCCG p.Gly422fs Female Rett syndrome-Not certain 1824 :Bunyan, D.::