N48H (p.Asn48His) variant of CLDN10 (Claudin-10)
N48H (p.Asn48His) in CLDN10 (Claudin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of HELIX syndrome. The record also includes structural context.
N48H (p.Asn48His) variant details
- p.Asn48His
- rs2501666805
- ClinGen CA388478746
- ClinVar RCV004555308
- Likely pathogenic
- HELIX syndrome
- Missense
- ClinVar: Likely pathogenic (HELIX syndrome)
- EBI: Likely pathogenic (in HELIX)
- UniProt: Likely pathogenic (in HELIX)
- Structural context available