Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Cys117Arg (p.C117R)
(
ENST00000440083.7,
ENST00000540022.5,
ENST00000162749.7 )
TNFRSF1A p.Cys117Arg (p.C117R) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 27378
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.349T>C
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-229T>C
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.611T>C
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.25T>C
- 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/RCV000013132
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Pubmed
- 9529351
- Pubmed
- 10199409
Drugs