Annotation Detail

Information
Associated Genes
TERT
Associated Variants
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT c.1951-205G>A ( ENST00000310581.10, ENST00000334602.10 )
Associated Disease
Chronic osteomyelitis
Source Database
ClinVar
Description
NM_198253.3(TERT):c.1951-205G>A AND Chronic osteomyelitis
ClinVar Allele ID
227598
ClinVar RefSeq Alternation Syntax
NM_001193376.3:c.1951-205G>A
ClinVar RefSeq Alternation Syntax
NM_198253.3:c.1951-205G>A
Clinical Significance Description
association
Clinical Significance Last Update
2016-09-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000498605
ClinVar Disease
Chronic osteomyelitis
Observed Origin Sample
tested-inconclusive
Drugs