A1204T (p.Ala1204Thr) variant of INSR (Insulin receptor)
A1204T (p.Ala1204Thr) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hyperinsulinism due to INSR deficiency. The record also includes structural context.
A1204T (p.Ala1204Thr) variant details
- p.Ala1204Thr
- NCI-TCGA Cosmic COSV5715
- NCI-TCGA Cosmic COSV5717
- cosmic curated COSV57173
- Likely pathogenic
- Hyperinsulinism due to INSR deficiency
- Missense
- ClinVar: Likely pathogenic (Hyperinsulinism due to INSR deficiency)
- UniProt: Likely pathogenic
- Structural context available