Annotation Detail
Information
- Associated Genes
- IL12RB2
- Associated Variants
-
IL12RB2 p.Pro779= (p.P779=)
(
ENST00000696755.1,
ENST00000544434.5,
ENST00000696757.1,
ENST00000648487.1,
ENST00000262345.5,
ENST00000696754.1,
ENST00000541374.6,
ENST00000674203.2 )
IL12RB2 p.Pro779= (p.P779=) ( ENST00000262345.5, ENST00000541374.6, ENST00000544434.5, ENST00000648487.1, ENST00000674203.2, ENST00000696754.1, ENST00000696755.1, ENST00000696757.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001374259.2(IL12RB2):c.2337C>A (p.Pro779=) AND not provided
- ClinVar Allele ID
- 1153690
- ClinVar RefSeq Alternation Syntax
- NM_001559.3:c.2337C>A
- ClinVar RefSeq Alternation Syntax
- NR_047584.1:n.3070C>A
- ClinVar RefSeq Alternation Syntax
- NM_001258216.1:c.*238C>A
- ClinVar RefSeq Alternation Syntax
- NR_047583.1:n.2727C>A
- ClinVar RefSeq Alternation Syntax
- NM_001258215.1:c.2079C>A
- ClinVar RefSeq Alternation Syntax
- NM_001319233.1:c.*257C>A
- ClinVar RefSeq Alternation Syntax
- NM_001258214.1:c.*257C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374259.2:c.2337C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001510945
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs