Annotation Detail
Information
- Associated Genes
- TLR2
- Associated Variants
-
TLR2 p.Arg753Gln (p.R753Q)
(
ENST00000260010.7,
ENST00000642580.1,
ENST00000642700.2,
ENST00000643501.2,
ENST00000646219.2,
ENST00000646900.2,
ENST00000714431.1,
ENST00000714432.1,
ENST00000714433.1,
ENST00000714434.1,
ENST00000714435.1,
ENST00000714436.1 )
TLR2 p.Arg753Gln (p.R753Q) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 ) - Associated Disease
- Mycobacterium tuberculosis, susceptibility to
- Source Database
- ClinVar
- Description
- NM_001318789.2(TLR2):c.2258G>A (p.Arg753Gln) AND Mycobacterium tuberculosis, susceptibility to
- ClinVar Allele ID
- 49355
- ClinVar RefSeq Alternation Syntax
- NM_001318795.2:c.2258G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318796.2:c.2258G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318793.2:c.2258G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318791.2:c.2258G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318790.2:c.2258G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318787.2:c.2258G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318789.2:c.2258G>A
- ClinVar RefSeq Alternation Syntax
- NM_003264.5:c.2258G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2012-11-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033853
- ClinVar Disease
- Mycobacterium tuberculosis, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 22992740
- Pubmed
- 16081826
- Pubmed
- 14979495
Drugs