Proband information


Proband id 1863
Systematic Name
(NM_004992.3:)
c.1123_1202del80
Protein name
(NP_004983)
p.Ser375fs
Alternate systematic Name
(NM_001110792.1:)
c.1159_1238del80
Alternate Protein name
(NP_001104262)
p.(Ser387Profs*3)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296077_153296156del80
Mutation type Frameshift insertion or 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.1123_1202del80 p.Ser375fs Female Rett syndrome-Not certain 1863 :Bunyan, D.::