G45D (p.Gly45Asp) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
G45D (p.Gly45Asp) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Christianson syndrome. The record also includes published literature and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- rs2521064844
- ClinGen CA414606586
- ClinVar RCV003513269
- Uncertain significance
- Christianson syndrome
- Missense
- ClinVar: Uncertain significance (Christianson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)