Variant information


Systematic Name
(NM_004992.3:)		 c.529A>T
Protein name
(NP_004983)		 p.Lys177*
Alternate systematic Name
(NM_001110792.1:)		 c.565A>T
Alternate Protein name
(NP_001104262)		 p.(Lys189*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296750T>A
Mutation type Nonsense
Domain Inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.529A>T p.Lys177* Female Not Known 1674 :Friez, Michael:: View details