Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Arg865His (p.R865H)
(
ENST00000334602.10,
ENST00000310581.10 )
TERT p.Arg865His (p.R865H) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- ClinVar Allele ID
- 27775
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.2491G>A
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2594G>A
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2594G>A
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.2455G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-05-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013573
- ClinVar Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Observed Origin Sample
- germline
- Pubmed
- 17460043
Drugs