Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 )
Associated Disease
chronic obstructive pulmonary disease
Source Database
ClinVar
Description
NM_198253.3(TERT):c.1574-3777G>T AND Chronic obstructive pulmonary disease
ClinVar Allele ID
362289
ClinVar RefSeq Alternation Syntax
NM_001193376.3:c.1574-3777G>T
ClinVar RefSeq Alternation Syntax
NM_198253.3:c.1574-3777G>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2021-05-04
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001788212
ClinVar Disease
Chronic obstructive pulmonary disease
Observed Origin Sample
germline
Drugs