Proband information


Proband id 1721
Systematic Name
(NM_004992.3:)
c.1324_1364del41
Protein name
(NP_004983)
p.Thr442fs
Alternate systematic Name
(NM_001110792.1:)
c.1360_1400del41
Alternate Protein name
(NP_001104262)
p.(Thr454Glyfs*31)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295915_153295955del41
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
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 Not Known
Reference :Friez, Michael::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1324_1364del41 p.Thr442fs Female Not Known 1721 :Friez, Michael::
2 c.1324_1364del41 p.Thr442fs Female Rett syndrome-classical 6644 :::