L32I (p.Leu32Ile) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
L32I (p.Leu32Ile) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Christianson syndrome. The record also includes published literature and structural context.
L32I (p.Leu32Ile) variant details
- p.Leu32Ile
- rs2521064023
- ClinGen CA414606501
- ClinVar RCV002630898
- ClinVar RCV005928313
- Likely benign
- Christianson syndrome
- Missense
- ClinVar: Likely benign (Christianson syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Christianson Syndrome. (PMID 29334451)