I207M (p.Ile207Met) variant of NKX2-1 (Homeobox protein Nkx-2.1)
I207M (p.Ile207Met) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Brain-lung-thyroid syndrome. The record also includes published literature and structural context.
I207M (p.Ile207Met) variant details
- p.Ile207Met
- rs2502628568
- ClinGen CA389459218
- ClinVar RCV003237302
- Pathogenic
- Brain-lung-thyroid syndrome
- Missense
- ClinVar: Pathogenic (Brain-lung-thyroid syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)