Annotation Detail

Information
Associated Genes
TERT LOC110806263
Associated Variants
TERT c.219+1G>A ( ENST00000310581.10, ENST00000334602.10 )
TERT c.219+1G>A ( ENST00000310581.10, ENST00000334602.10 )
Associated Disease
interstitial lung disease 2
Source Database
ClinVar
Description
NM_198253.3(TERT):c.219+1G>A AND Interstitial lung disease 2
ClinVar Allele ID
27777
ClinVar RefSeq Alternation Syntax
NM_001193376.3:c.219+1G>A
ClinVar RefSeq Alternation Syntax
NM_198253.3:c.219+1G>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000032380
ClinVar Disease
Interstitial lung disease 2
Observed Origin Sample
unknown
Drugs