Y344C (p.Tyr344Cys) variant of GATA3 (P23771)
Y344C (p.Tyr344Cys) in GATA3 (P23771) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hypoparathyroidism, deafness, renal disease syndrome.
Y344C (p.Tyr344Cys) variant details
- p.Tyr344Cys
- NCI-TCGA TCGA novel
- Ensembl rs2131512321
- Likely pathogenic
- Hypoparathyroidism, deafness, renal disease syndrome
- Missense
- ClinVar: Likely pathogenic (Hypoparathyroidism, deafness, renal disease syndrome)
- UniProt: Likely pathogenic