I167N (p.Ile167Asn) variant of TSHR (Thyrotropin receptor)
I167N (p.Ile167Asn) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypothyroidism due to TSH receptor mutations. The record also includes published literature and structural context.
I167N (p.Ile167Asn) variant details
- p.Ile167Asn
- rs121908862
- ClinGen CA118203
- ClinVar RCV000006804
- Ensembl rs121908862
- Pathogenic
- Hypothyroidism due to TSH receptor mutations
- Missense
- ClinVar: Pathogenic (Hypothyroidism due to TSH receptor mutations)
- EBI: Pathogenic (in CHNG1)
- UniProt: Pathogenic (in CHNG1)
- Structural context available
- Cited in: Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. (PMID 7528344)
- Cited in: Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin… (PMID 10720030)