N115T (p.Asn115Thr) variant of GHR (Growth hormone receptor)
N115T (p.Asn115Thr) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Laron-type isolated somatotropin defect. The record also includes structural context.
N115T (p.Asn115Thr) variant details
- p.Asn115Thr
- rs1579626395
- ClinGen CA359695162
- ClinVar RCV000995550
- ClinVar RCV005093002
- Pathogenic/Likely pathogenic
- not provided; Laron-type isolated somatotropin defect
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Laron-type isolated somatotropin defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available