G448R (p.Gly448Arg) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
G448R (p.Gly448Arg) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Christianson syndrome. The record also includes published literature.
G448R (p.Gly448Arg) variant details
- p.Gly448Arg
- rs2521333666
- ClinGen CA414753131
- ClinVar RCV003229503
- Likely pathogenic
- Christianson syndrome
- Missense
- ClinVar: Likely pathogenic (Christianson syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Christianson Syndrome. (PMID 29334451)