C620Y (p.Cys620Tyr) variant of RET (P07949)
C620Y (p.Cys620Tyr) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs. The record also includes published literature and structural context.
C620Y (p.Cys620Tyr) variant details
- p.Cys620Tyr
- rs77503355
- ClinGen CA008076
- ClinVar RCV000014936
- ClinVar RCV000021801
- Pathogenic
- Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs
- Missense
- ClinVar: Pathogenic (Familial medullary thyroid carcinoma; Multiple endocrine neoplas)
- EBI: Pathogenic (in MEN2A)
- UniProt: Pathogenic (in MEN2A)
- Structural context available
- Cited in: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. (PMID 8103403)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)