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
not provided
Source Database
ClinVar
Description
NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) AND not provided
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
2021-06-09
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001673101
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs