Annotation Detail
Information
- Associated Genes
- IL12B
- Associated Variants
-
IL12B c.*159A>C
(
ENST00000231228.3,
ENST00000696750.1 )
IL12B c.*159A>C ( ENST00000231228.3, ENST00000696750.1 ) - Associated Disease
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Source Database
- ClinVar
- Description
- NM_002187.3(IL12B):c.*159A>C AND Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- ClinVar Allele ID
- 298595
- ClinVar RefSeq Alternation Syntax
- NM_002187.3:c.*159A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000307367
- ClinVar Disease
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Observed Origin Sample
- germline
Drugs