K1037N (p.Lys1037Asn) variant of ATP7A (Copper-transporting ATPase 1)
K1037N (p.Lys1037Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula. The record also includes published literature.
K1037N (p.Lys1037Asn) variant details
- p.Lys1037Asn
- rs2522392716
- ClinGen CA413603413
- ClinVar RCV003312827
- ClinVar RCV003777273
- Pathogenic
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- ClinVar: Pathogenic (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Pathogenic (in MNK)
- UniProt: Pathogenic (in MNK)
- Cited in: Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of… (PMID 28389643)
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)