Q174H (p.Gln174His) variant of AVPR2 (Vasopressin V2 receptor)
Q174H (p.Gln174His) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked. The record also includes published literature and structural context.
Q174H (p.Gln174His) variant details
- p.Gln174His
- rs2521156033
- ClinGen CA415106847
- ClinVar RCV003883493
- Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Likely pathogenic (in NDI1)
- UniProt: Likely pathogenic (in NDI1)
- Structural context available
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)