Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Cys62Gly (p.C62G)
(
ENST00000540022.5,
ENST00000162749.7,
ENST00000440083.7 )
TNFRSF1A p.Cys62Gly (p.C62G) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 27382
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.-131-235T>G
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.184T>G
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.446T>G
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-394T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013136
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Pubmed
- 11443543
Drugs