C1077R (p.Cys1077Arg) variant of TG (Thyroglobulin)
C1077R (p.Cys1077Arg) 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.
C1077R (p.Cys1077Arg) variant details
- p.Cys1077Arg
- rs137854433
- ClinGen CA210707
- ClinVar RCV000013539
- Ensembl rs137854433
- Pathogenic
- Iodotyrosyl coupling defect
- Missense
- ClinVar: Pathogenic (Iodotyrosyl coupling defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. (PMID 16720658)