T273M (p.Thr273Met) variant of AVPR2 (Vasopressin V2 receptor)
T273M (p.Thr273Met) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked.
T273M (p.Thr273Met) variant details
- p.Thr273Met
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61686
- Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- UniProt: Likely pathogenic