Proband information


Proband id 1857
Systematic Name
(NM_004992.3:)
c.108_111delAGAA
Protein name
(NP_004983)
p.Glu37fs
Alternate systematic Name
(NM_001110792.1:)
c.144_147delAGAA
Alternate Protein name
(NP_001104262)
p.(Glu49Argfs*87)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297924_153297927delTTCT
Mutation type Frameshift insertion or deletion
Domain N-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.108_111delAGAA p.Glu37fs Female Rett syndrome-Not certain 1857 :Bunyan, D.::
2 c.108_111delAGAA p.Glu37fs Female Rett syndrome-Not certain 1876 :::