T453N (p.Thr453Asn) variant of GATA6 (Transcription factor GATA-6)
T453N (p.Thr453Asn) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Neutropenia, severe congenital, 8, autosomal dominant; Pancreatic hypoplasia-dia. The record also includes structural context.
T453N (p.Thr453Asn) variant details
- p.Thr453Asn
- cosmic curated COSV99333
- Likely pathogenic
- Neutropenia, severe congenital, 8, autosomal dominant; Pancreatic hypoplasia-dia
- Missense
- ClinVar: Likely pathogenic (Neutropenia, severe congenital, 8, autosomal dominant; Pancreati)
- UniProt: Likely pathogenic
- Structural context available