Annotation Detail

Information
Associated Genes
TLR3
Associated Variants
TLR3 p.Leu412Phe (p.L412F) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
TLR3 p.Leu412Phe (p.L412F) ( ENST00000296795.8, ENST00000504367.1, ENST00000508051.2, ENST00000512264.1, ENST00000698351.1, ENST00000698354.1 )
Associated Disease
TLR3-related disorder
Source Database
ClinVar
Description
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND TLR3-related disorder
Observed Origin Sample
germline
ClinVar Allele ID
49908
ClinVar RefSeq Alternation Syntax
NM_003265.3:c.1234C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-28
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003974868
ClinVar Disease
TLR3-related disorder
Drugs