Annotation Detail
Information
- Associated Genes
- TNFAIP3
- Associated Variants
-
TNFAIP3 p.Ala125Val (p.A125V)
(
ENST00000237289.8,
ENST00000420009.6,
ENST00000421450.2,
ENST00000433680.2,
ENST00000612899.5 )
TNFAIP3 p.Ala125Val (p.A125V) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) AND not provided
- ClinVar Allele ID
- 139071
- ClinVar RefSeq Alternation Syntax
- NM_001270507.2:c.374C>T
- ClinVar RefSeq Alternation Syntax
- NM_001270508.2:c.374C>T
- ClinVar RefSeq Alternation Syntax
- NM_006290.4:c.374C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000963875
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs