Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1461A>G p.*487Trpext*27 Female Not Known 1700 :Friez, Michael:: View details