Annotation Detail
Information
- Associated Genes
- IRF7
- Associated Variants
-
IRF7 p.Gln425Arg (p.Q425R)
(
ENST00000397570.5,
ENST00000525445.6,
ENST00000397566.5,
ENST00000330243.9,
ENST00000348655.11 )
IRF7 p.Gln425Arg (p.Q425R) ( ENST00000330243.9, ENST00000348655.11, ENST00000397566.5, ENST00000397570.5, ENST00000525445.6 ) - Associated Disease
- immunodeficiency 39
- Source Database
- ClinVar
- Description
- NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) AND Immunodeficiency 39
- ClinVar Allele ID
- 1156730
- ClinVar RefSeq Alternation Syntax
- NM_001572.5:c.1235A>G
- ClinVar RefSeq Alternation Syntax
- NM_004031.4:c.1274A>G
- ClinVar RefSeq Alternation Syntax
- NM_004029.4:c.1148A>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/RCV001522703
- ClinVar Disease
- Immunodeficiency 39
- Observed Origin Sample
- germline
Drugs