Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.46C>T p.Gln16* Female Not Known 1678 :Friez, Michael:: View details
2 c.46C>T p.Gln16* Female Not Known 1762 :Friez, Michael:: View details