C620F (p.Cys620Phe) variant of RET (P07949)
C620F (p.Cys620Phe) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple endocrine neoplasia type 2A; Hirschsprung disease, susceptibility to, 1. The record also includes published literature and structural context.
C620F (p.Cys620Phe) variant details
- p.Cys620Phe
- rs77503355
- ClinGen CA008094
- cosmic curated COSV10887
- ClinVar RCV000014953
- Pathogenic
- Multiple endocrine neoplasia type 2A; Hirschsprung disease, susceptibility to, 1
- Missense
- ClinVar: Pathogenic (Multiple endocrine neoplasia type 2A; Hirschsprung disease, susc)
- EBI: Pathogenic (in MEN2A and MTC)
- UniProt: Pathogenic (in MEN2A and MTC)
- Structural context available
- Cited in: Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. (PMID 7915165)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)