Annotation Detail

Information
Associated Genes
IFIH1
Associated Variants
IFIH1 p.His843Arg (p.H843R) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 )
IFIH1 p.His843Arg (p.H843R) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND not specified
ClinVar Allele ID
250307
ClinVar RefSeq Alternation Syntax
NM_022168.4:c.2528A>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2023-11-12
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000253451
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs