Annotation Detail
Information
- Associated Genes
- TLR4
- Associated Variants
-
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G)
(
ENST00000355622.8,
ENST00000394487.5,
ENST00000472304.2 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- Pericementitis
- Source Database
- ClinVar
- Description
- NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) AND Pericementitis
- ClinVar Allele ID
- 21699
- ClinVar RefSeq Alternation Syntax
- NM_138554.5:c.896A>G
- ClinVar RefSeq Alternation Syntax
- NM_138557.3:c.296A>G
- ClinVar RefSeq Alternation Syntax
- NM_003266.4:c.776A>G
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2018-12-03
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001729340
- ClinVar Disease
- Pericementitis
- Observed Origin Sample
- somatic
Drugs