Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Thr79Lys (p.T79K)
(
ENST00000540022.5,
ENST00000162749.7,
ENST00000440083.7 )
TNFRSF1A p.Thr79Lys (p.T79K) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.236C>A (p.Thr79Lys) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 103559
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-342C>A
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.-89C>A
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.236C>A
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.498C>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000083920
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- not provided
Drugs