H534R (p.His534Arg) variant of TERT (Telomerase reverse transcriptase)
H534R (p.His534Arg) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1. The record also includes published literature and structural context.
H534R (p.His534Arg) variant details
- p.His534Arg
- rs2478306957
- ClinGen CA359083531
- ClinVar RCV002332944
- ClinVar RCV002509765
- Likely pathogenic
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Missense
- ClinVar: Likely pathogenic (Pulmonary fibrosis and/or bone marrow failure, Telomere-related,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)