Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Cys117Tyr (p.C117Y)
(
ENST00000540022.5,
ENST00000162749.7,
ENST00000440083.7 )
TNFRSF1A p.Cys117Tyr (p.C117Y) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 27379
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-228G>A
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.350G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.26G>A
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.612G>A
- 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/RCV000013133
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Pubmed
- 1402641
- Pubmed
- 10199409
Drugs