G78S (p.Gly78Ser) variant of PAX8 (Paired box protein Pax-8)
G78S (p.Gly78Ser) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypothyroidism, congenital, nongoitrous, 2. The record also includes structural context.
G78S (p.Gly78Ser) variant details
- p.Gly78Ser
- NCI-TCGA Cosmic COSV9963
- cosmic curated COSV99639
- Uncertain significance
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- ClinVar: Uncertain significance (Hypothyroidism, congenital, nongoitrous, 2)
- UniProt: Uncertain significance
- Structural context available