Proband information


Proband id 1700
Systematic Name
(NM_004992.3:)		 c.1461A>G
Protein name
(NP_004983)		 p.*487Trpext*27
Alternate systematic Name
(NM_001110792.1:)		 c.1497A>G
Alternate Protein name
(NP_001104262)		 p.(*499Trpext*27)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295818T>C
Mutation type Nonstop
Domain C-term
Pathogenicity Unknown
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.1461A>G p.*487Trpext*27 Female Not Known 1700 :Friez, Michael::