Annotation Detail
Information
- Associated Genes
- IFNGR1
- Associated Variants
-
IFNGR1 p.Ile37TyrfsTer3 (p.I37Yfs*3)
(
ENST00000367739.9,
ENST00000414770.6,
ENST00000458076.6,
ENST00000642390.1,
ENST00000644894.1,
ENST00000645045.1,
ENST00000645753.1,
ENST00000646036.1,
ENST00000646898.1,
ENST00000647124.1,
ENST00000696693.1,
ENST00000696694.1,
ENST00000696695.1 )
IFNGR1 p.Ile37TyrfsTer3 (p.I37Yfs*3) ( ENST00000367739.9, ENST00000414770.6, ENST00000458076.6, ENST00000642390.1, ENST00000644894.1, ENST00000645045.1, ENST00000645753.1, ENST00000646036.1, ENST00000646898.1, ENST00000647124.1, ENST00000696693.1, ENST00000696694.1, ENST00000696695.1 ) - Associated Disease
- immunodeficiency 27A
- Source Database
- ClinVar
- Description
- NM_000416.3(IFNGR1):c.104_107dup (p.Ile37fs) AND Immunodeficiency 27A
- ClinVar Allele ID
- 32984
- ClinVar RefSeq Alternation Syntax
- NM_001363527.1:c.-20_-17dup
- ClinVar RefSeq Alternation Syntax
- NM_000416.3:c.104_107dup
- ClinVar RefSeq Alternation Syntax
- NM_001363526.1:c.74_77dup
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019541
- ClinVar Disease
- Immunodeficiency 27A
- Observed Origin Sample
- germline
- Pubmed
- 9497247
- Pubmed
- 9142806
Drugs