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, susceptibility to, 1
Source Database
ClinVar
Description
NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile) AND Leprosy, susceptibility to, 1
ClinVar Allele ID
23399
ClinVar RefSeq Alternation Syntax
NM_003263.4:c.1805G>T
Clinical Significance Description
Uncertain risk allele
Clinical Significance Last Update
2022-06-10
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002291545
ClinVar Disease
Leprosy, susceptibility to, 1
Observed Origin Sample
inherited
Drugs