F555C (p.Phe555Cys) variant of RET (P07949)
F555C (p.Phe555Cys) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial medullary thyroid carcinoma; Hirschsprung disease, susceptibility to, 1. The record also includes published literature and structural context.
F555C (p.Phe555Cys) variant details
- p.Phe555Cys
- rs2538470328
- ClinGen CA376551792
- ClinVar RCV002403881
- ClinVar RCV003492764
- Likely pathogenic
- Familial medullary thyroid carcinoma; Hirschsprung disease, susceptibility to, 1
- Missense
- ClinVar: Likely pathogenic (Familial medullary thyroid carcinoma; Hirschsprung disease, susc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Medullary thyroid cancer: management guidelines of the American Thyroid Association. (PMID 19469690)