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
- Hereditary cancer-predisposing syndrome dyskeratosis congenita
- 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
- Likely benign
- Clinical Significance Last Update
- 2022-02-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002392811
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- ClinVar Disease
- Dyskeratosis congenita
- Observed Origin Sample
- germline
Drugs