Q204L (p.Gln204Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
Q204L (p.Gln204Leu) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brain-lung-thyroid syndrome. The record also includes published literature and structural context.
Q204L (p.Gln204Leu) variant details
- p.Gln204Leu
- rs2502628616
- ClinGen CA389459240
- ClinVar RCV003237300
- cosmic curated COSV61390
- Likely pathogenic
- Brain-lung-thyroid syndrome
- Missense
- ClinVar: Likely pathogenic (Brain-lung-thyroid syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)