C28A (p.Cys28Ala) variant of CDH1 (Cadherin-1)
C28A (p.Cys28Ala) in CDH1 (Cadherin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
C28A (p.Cys28Ala) variant details
- p.Cys28Ala
- rs2543816722
- ClinGen CA645569991
- ClinVar RCV003336883
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)