Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT c.*178_*2delGGCCACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGA
(
ENST00000310581.10 )
TERT c.*178_*2delGGCCACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGA ( ENST00000310581.10 ) - Associated Disease
- interstitial lung disease 2
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.*6_*182del AND Interstitial lung disease 2
- ClinVar Allele ID
- 47729
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.*6_*182del
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.3077_3253del
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.*6_*182del
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.3113_3289del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-05-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032396
- ClinVar Disease
- Interstitial lung disease 2
- Observed Origin Sample
- not provided
Drugs