Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.His412Tyr (p.H412Y)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( 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.1234C>T (p.His412Tyr) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- ClinVar Allele ID
- 27769
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.1313C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.1234C>T
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.1313C>T
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.1234C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013567
- ClinVar Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Observed Origin Sample
- germline
- Pubmed
- 18042801
- Pubmed
- 15814878
Drugs