G69S (p.Gly69Ser) variant of PAX8 (Paired box protein Pax-8)
G69S (p.Gly69Ser) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypothyroidism, congenital, nongoitrous, 2. The record also includes structural context.
G69S (p.Gly69Ser) variant details
- p.Gly69Ser
- rs2466930096
- ClinGen CA348302828
- ClinVar RCV003985221
- Likely pathogenic
- Hypothyroidism, congenital, nongoitrous, 2
- Missense
- ClinVar: Likely pathogenic (Hypothyroidism, congenital, nongoitrous, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available