Annotation Detail
Information
- Associated Genes
- TLR2
- Associated Variants
-
TLR2 p.Asn199= (p.N199=)
(
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.Asn199= (p.N199=) ( 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
- TLR2-related disorder
- Source Database
- ClinVar
- Description
- NM_001318789.2(TLR2):c.597T>C (p.Asn199=) AND TLR2-related disorder
- ClinVar Allele ID
- 3197327
- ClinVar RefSeq Alternation Syntax
- NM_001318795.2:c.597T>C
- ClinVar RefSeq Alternation Syntax
- NM_003264.5:c.597T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318787.2:c.597T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318790.2:c.597T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318793.2:c.597T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318791.2:c.597T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318789.2:c.597T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318796.2:c.597T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982423
- ClinVar Disease
- TLR2-related disorder
- Observed Origin Sample
- germline
Drugs