R275Q (p.Arg275Gln) variant of GATA3 (P23771)
R275Q (p.Arg275Gln) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypoparathyroidism, deafness, renal disease syndrome; not provided.
R275Q (p.Arg275Gln) variant details
- p.Arg275Gln
- cosmic curated COSV60516
- TOPMed rs1832792205
- Pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome; not provided
- Missense
- ClinVar: Pathogenic (Hypoparathyroidism, deafness, renal disease syndrome; not provid)
- EBI: Pathogenic
- UniProt: Pathogenic