Proband information


Proband id 1736
Systematic Name
(NM_004992.3:)		 c.1129_1193del65
Protein name
(NP_004983)		 p.Lys377fs
Alternate systematic Name
(NM_001110792.1:)		 c.1165_1229del65
Alternate Protein name
(NP_001104262)		 p.(Lys389Profs*6)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296086_153296150del65
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.1129_1193del65 p.Lys377fs Female Not Known 1736 :Friez, Michael::