T253I (p.Thr253Ile) variant of LRP5 (O75197)
T253I (p.Thr253Ile) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant osteopetrosis 1. The record also includes published literature and structural context.
T253I (p.Thr253Ile) variant details
- p.Thr253Ile
- rs121908673
- ClinGen CA118100
- ClinVar RCV000006665
- UniProt VAR 021813
- Pathogenic
- Autosomal dominant osteopetrosis 1
- Missense
- ClinVar: Pathogenic (Autosomal dominant osteopetrosis 1)
- EBI: Pathogenic (in OPTA1)
- UniProt: Pathogenic (in OPTA1)
- Structural context available
- Cited in: Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13. (PMID 12054167)
- Cited in: Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an… (PMID 12579474)