Annotation Detail
Information
- Associated Genes
- IFNGR2
- Associated Variants
-
IFNGR2 p.Gln83Arg (p.Q83R)
(
ENST00000290219.11,
ENST00000381995.5,
ENST00000405436.5 )
IFNGR2 p.Gln83Arg (p.Q83R) ( ENST00000290219.11, ENST00000381995.5, ENST00000405436.5 ) - Associated Disease
- immunodeficiency 28
- Source Database
- ClinVar
- Description
- NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) AND Immunodeficiency 28
- ClinVar Allele ID
- 1158979
- ClinVar RefSeq Alternation Syntax
- NM_001329128.2:c.248A>G
- ClinVar RefSeq Alternation Syntax
- NM_005534.4:c.191A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001520782
- ClinVar Disease
- Immunodeficiency 28
- Observed Origin Sample
- germline
Drugs