C503G (p.Cys503Gly) variant of POT1 (Q9NUX5)
C503G (p.Cys503Gly) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dyskeratosis congenita. The record also includes published literature and structural context.
C503G (p.Cys503Gly) variant details
- p.Cys503Gly
- rs2485352948
- ClinGen CA369064715
- ClinVar RCV003991552
- Likely pathogenic
- Dyskeratosis congenita
- Missense
- ClinVar: Likely pathogenic (Dyskeratosis congenita)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)