Proband information


Proband id 1711
Systematic Name
(NM_004992.3:)
c.1330_1342del13
Protein name
(NP_004983)
p.Ala444fs
Alternate systematic Name
(NM_001110792.1:)
c.1366_1378del13
Alternate Protein name
(NP_001104262)
p.(Ala456Lysfs*34)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153295937_153295949del13
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.1330_1342del13 p.Ala444fs Female Not Known 1711 :Friez, Michael::