Q60H (p.Gln60His) variant of CLCN1 (Chloride channel protein 1)
Q60H (p.Gln60His) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
Q60H (p.Gln60His) variant details
- p.Gln60His
- TOPMed rs1296103687
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available