Annotation Detail
Information
- Associated Genes
- AGER
- Associated Variants
-
AGER c.870+49G>T
(
ENST00000375055.6,
ENST00000375067.7,
ENST00000375069.7,
ENST00000375070.7,
ENST00000375076.9,
ENST00000438221.6 )
AGER c.870+49G>T ( ENST00000375055.6, ENST00000375067.7, ENST00000375069.7, ENST00000375070.7, ENST00000375076.9, ENST00000438221.6 ) - Associated Disease
- COPD, severe early onset
- Source Database
- ClinVar
- Description
- NM_001136.5(AGER):c.822+49G>T AND COPD, severe early onset
- ClinVar Allele ID
- 2750410
- ClinVar RefSeq Alternation Syntax
- NM_001206934.2:c.870+49G>T
- ClinVar RefSeq Alternation Syntax
- NM_001136.5:c.822+49G>T
- ClinVar RefSeq Alternation Syntax
- NM_001206966.2:c.822+49G>T
- ClinVar RefSeq Alternation Syntax
- NM_001206936.2:c.822+49G>T
- ClinVar RefSeq Alternation Syntax
- NM_001206940.2:c.822+49G>T
- ClinVar RefSeq Alternation Syntax
- NM_172197.3:c.809+20G>T
- ClinVar RefSeq Alternation Syntax
- NM_001206932.2:c.780+49G>T
- ClinVar RefSeq Alternation Syntax
- NM_001206929.2:c.870+49G>T
- ClinVar RefSeq Alternation Syntax
- NM_001206954.2:c.822+49G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-08-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003993688
- ClinVar Disease
- COPD, severe early onset
- Observed Origin Sample
- germline
Drugs