Annotation Detail

Information
Associated Genes
TLR4
Associated Variants
ENSG00000285082 c.140+4241G>A, TLR4 p.Cys281Tyr (p.C281Y) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4241G>A, TLR4 p.Cys281Tyr (p.C281Y) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_138554.5(TLR4):c.842G>A (p.Cys281Tyr) AND not provided
ClinVar Allele ID
106481
ClinVar RefSeq Alternation Syntax
NM_003266.4:c.722G>A
ClinVar RefSeq Alternation Syntax
NM_138557.3:c.242G>A
ClinVar RefSeq Alternation Syntax
NM_138554.5:c.842G>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000087000
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs