Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Cys81Phe (p.C81F)
(
ENST00000440083.7,
ENST00000162749.7,
ENST00000540022.5 )
TNFRSF1A p.Cys81Phe (p.C81F) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.242G>T (p.Cys81Phe) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 27377
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-336G>T
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.504G>T
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.242G>T
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.-83G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-04-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013131
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Pubmed
- 10199409
Drugs