D79G (p.Asp79Gly) variant of ATP7A (Copper-transporting ATPase 1)
D79G (p.Asp79Gly) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Menkes kinky-hair syndrome; X-linked distal spinal muscular atrophy type 3; Cuti. The record also includes published literature and structural context.
D79G (p.Asp79Gly) variant details
- p.Asp79Gly
- rs2522289170
- ClinGen CA413599137
- ClinVar RCV002745660
- Uncertain significance
- Menkes kinky-hair syndrome; X-linked distal spinal muscular atrophy type 3; Cuti
- Missense
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome; X-linked distal spinal muscular atro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)