Annotation Detail
Information
- Associated Genes
- TNFAIP3
- Associated Variants
-
TNFAIP3 p.Phe127Cys (p.F127C)
(
ENST00000237289.8,
ENST00000420009.6,
ENST00000421450.2,
ENST00000433680.2,
ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 ) - Associated Disease
- Autoinflammatory syndrome, familial, Behcet-like 1
- Source Database
- ClinVar
- Description
- NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) AND Autoinflammatory syndrome, familial, Behcet-like 1
- ClinVar Allele ID
- 139073
- ClinVar RefSeq Alternation Syntax
- NM_001270507.2:c.380T>G
- ClinVar RefSeq Alternation Syntax
- NM_001270508.2:c.380T>G
- ClinVar RefSeq Alternation Syntax
- NM_006290.4:c.380T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003103986
- ClinVar Disease
- Autoinflammatory syndrome, familial, Behcet-like 1
- Observed Origin Sample
- germline
Drugs