Annotation Detail

Information
Associated Genes
TLR4
Associated Variants
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) AND not provided
ClinVar Allele ID
21700
ClinVar RefSeq Alternation Syntax
NM_138557.3:c.596C>T
ClinVar RefSeq Alternation Syntax
NM_138554.5:c.1196C>T
ClinVar RefSeq Alternation Syntax
NM_003266.4:c.1076C>T
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000086999
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs