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
- Immunodeficiency 83, susceptibility to viral infections Susceptibility to HIV infection
- Source Database
- ClinVar
- Description
- NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND multiple conditions
- ClinVar Allele ID
- 49908
- ClinVar RefSeq Alternation Syntax
- NM_003265.3:c.1234C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490456
- ClinVar Disease
- Immunodeficiency 83, susceptibility to viral infections
- ClinVar Disease
- Susceptibility to HIV infection
- Observed Origin Sample
- unknown
Drugs