R298Q (p.Arg298Gln) variant of GATA3 (P23771)
R298Q (p.Arg298Gln) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypoparathyroidism, deafness, renal disease syndrome. The record also includes variant effect predictions and published literature.
R298Q (p.Arg298Gln) variant details
- p.Arg298Gln
- rs2131501118
- ClinGen CA375973710
- cosmic curated COSV60517
- ClinVar RCV003062246
- Pathogenic/Likely pathogenic
- not provided; Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- MutPred 0.49
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypoparathyroidism, deafness, renal disease syndro)
- EBI: Pathogenic (in HDR)
- UniProt: Pathogenic (in HDR)
- Cited in: A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal… (PMID 26514990)
- Cited in: GATA3 haplo-insufficiency causes human HDR syndrome. (PMID 10935639)