Annotation Detail
Information
- Associated Genes
- TLR1
- Associated Variants
-
TLR1 p.Ser602Ile (p.S602I)
(
ENST00000308979.7,
ENST00000502213.6 )
TLR1 p.Ser602Ile (p.S602I) ( ENST00000308979.7, ENST00000502213.6 ) - Associated Disease
- Leprosy, protection against
- Source Database
- ClinVar
- Description
- NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile) AND Leprosy, protection against
- ClinVar Allele ID
- 23399
- ClinVar RefSeq Alternation Syntax
- NM_003263.4:c.1805G>T
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2012-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008865
- ClinVar Disease
- Leprosy, protection against
- Observed Origin Sample
- germline
- Pubmed
- 18461142
- Pubmed
- 26729809
- Pubmed
- 17548585
- Pubmed
- 23105135
Drugs