Annotation Detail
Information
- Associated Genes
- TERT LOC110806263
- Associated Variants
-
TERT p.Leu50= (p.L50=)
(
ENST00000334602.10,
ENST00000310581.10 )
TERT p.Leu50= (p.L50=) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- acute myeloid leukemia Dyskeratosis congenita, autosomal dominant 1 aplastic anemia Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Dyskeratosis congenita, autosomal dominant 2 interstitial lung disease 2 Melanoma, cutaneous malignant, susceptibility to, 9
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.150G>A (p.Leu50=) AND multiple conditions
- ClinVar Allele ID
- 273563
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.229G>A
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.150G>A
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.229G>A
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.150G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000764569
- 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