G989E (p.Gly989Glu) variant of ABCC9 (O60706)
G989E (p.Gly989Glu) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCC9-related disorder; Hypertrichotic osteochondrodysplasia Cantu type. The record also includes published literature and structural context.
G989E (p.Gly989Glu) variant details
- p.Gly989Glu
- rs2541079837
- ClinGen CA384120172
- ClinVar RCV004529304
- ClinVar RCV005871151
- Pathogenic/Likely pathogenic
- ABCC9-related disorder; Hypertrichotic osteochondrodysplasia Cantu type
- Missense
- ClinVar: Pathogenic/Likely pathogenic (ABCC9-related disorder; Hypertrichotic osteochondrodysplasia Can)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cantú Syndrome. (PMID 25275207)