Proband information


Proband id 1641
Systematic Name
(NM_004992.3:)
c.428_429insT
Protein name
(NP_004983)
p.Glu143fs
Alternate systematic Name
(NM_001110792.1:)
c.464_465insT
Alternate Protein name
(NP_001104262)
p.(Glu155Aspfs*11)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296850_153296851insA
Mutation type Frameshift insertion or deletion
Domain MBD
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.428_429insT p.Glu143fs Female Rett syndrome-Not certain 1641 :Bunyan, D.::