Q70* (p.Gln70Ter) variant of ATP7B (Copper-transporting ATPase 2)

Name: ATP7B Q70* (p.Gln70Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

Q70* (p.Gln70Ter) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q70* (p.Gln70Ter) variant details

p.Gln70Ter
rs2547825108
ClinGen CA388044970
ClinVar RCV002424022
ClinVar RCV003464547
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)