Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Thr1110Met (p.T1110M)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Thr1110Met (p.T1110M) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Melanoma, cutaneous malignant, susceptibility to, 9 Dyskeratosis congenita, autosomal dominant 2 interstitial lung disease 2 aplastic anemia acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 1
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions
- ClinVar Allele ID
- 47728
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.3329C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.3140C>T
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.3037C>T
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.3001C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-08-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002482937
- ClinVar Disease
- Aplastic anemia
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 2
- ClinVar Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 1
- ClinVar Disease
- Acute myeloid leukemia
- ClinVar Disease
- Interstitial lung disease 2
- ClinVar Disease
- Melanoma, cutaneous malignant, susceptibility to, 9
- Observed Origin Sample
- unknown
Drugs