Proband information


Proband id 1754
Systematic Name
(NM_004992.3:)
c.1157_1191del35
Protein name
(NP_004983)
p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)
c.1193_1227del35
Alternate Protein name
(NP_001104262)
p.(Leu398Argfs*7)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296088_153296122del35
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.1157_1191del35 p.Leu386fs Female Not Known 1742 :Friez, Michael::
2 c.1157_1191del35 p.Leu386fs Female Not Known 1754 :Friez, Michael::
3 c.1157_1191del35 p.Leu386fs Female Not Known 1776 :Friez, Michael::
4 c.1157_1191del35 p.Leu386fs Female Not Known 1780 :Friez, Michael::
5 c.1157_1191del35 p.Leu386fs Female Not Known 1814 :Friez, Michael::