Annotation Detail
Information
- Associated Genes
- TLR4
- Associated Variants
-
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I)
(
ENST00000355622.8,
ENST00000394487.5,
ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- COPD, severe early onset
- Source Database
- ClinVar
- Description
- NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) AND COPD, severe early onset
- ClinVar Allele ID
- 21700
- ClinVar RefSeq Alternation Syntax
- NM_138557.3:c.596C>T
- ClinVar RefSeq Alternation Syntax
- NM_138554.5:c.1196C>T
- ClinVar RefSeq Alternation Syntax
- NM_003266.4:c.1076C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003390650
- ClinVar Disease
- COPD, severe early onset
- Observed Origin Sample
- germline
Drugs