Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Pro75Leu (p.P75L)
(
ENST00000440083.7,
ENST00000162749.7,
ENST00000540022.5 )
TNFRSF1A p.Pro75Leu (p.P75L) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 244836
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.224C>T
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.486C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.-101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-354C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000534430
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs