D368H (p.Asp368His) variant of CHEK2 (O96017)
D368H (p.Asp368His) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cancer of breast. The record also includes published literature and structural context.
D368H (p.Asp368His) variant details
- p.Asp368His
- rs755127902
- ClinGen CA411097186
- ClinVar RCV004442708
- ExAC rs755127902
- Likely pathogenic
- Familial cancer of breast
- Missense
- ClinVar: Likely pathogenic (Familial cancer of breast)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)