Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Cys99Gly (p.C99G)
(
ENST00000540022.5,
ENST00000440083.7,
ENST00000162749.7 )
TNFRSF1A p.Cys99Gly (p.C99G) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.295T>G (p.Cys99Gly) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 103579
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.557T>G
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.-30T>G
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.295T>G
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-283T>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000083940
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- not provided
Drugs