Variant information


Systematic Name
(NM_004992.3:)
c.146C>G
Protein name
(NP_004983)
p.Ser49*
Alternate systematic Name
(NM_001110792.1:)
c.182C>G
Alternate Protein name
(NP_001104262)
p.(Ser61*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297889G>C
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.146C>G p.Ser49* Female Not Known 4423 :Das, S., Dempsey, M. U. Chicago:: View details