C1245R (p.Cys1245Arg) variant of TG (Thyroglobulin)
C1245R (p.Cys1245Arg) in TG (Thyroglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Iodotyrosyl coupling defect. The record also includes published literature and structural context.
C1245R (p.Cys1245Arg) variant details
- p.Cys1245Arg
- rs121912647
- ClinGen CA210700
- ClinVar RCV000013530
- Ensembl rs121912647
- Pathogenic
- Iodotyrosyl coupling defect
- Missense
- ClinVar: Pathogenic (Iodotyrosyl coupling defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of… (PMID 10199792)
- Cited in: High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. (PMID 16187918)