Proband information


Proband id 1678
Systematic Name
(NM_004992.3:)		 c.46C>T
Protein name
(NP_004983)		 p.Gln16*
Alternate systematic Name
(NM_001110792.1:)		 c.82C>T
Alternate Protein name
(NP_001104262)		 p.(Gln28*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297989G>A
Mutation type Nonsense
Domain N-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.46C>T p.Gln16* Female Not Known 1678 :Friez, Michael::
2 c.46C>T p.Gln16* Female Not Known 1762 :Friez, Michael::