Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Arg121Gln (p.R121Q)
(
ENST00000440083.7,
ENST00000540022.5,
ENST00000162749.7 )
TNFRSF1A p.Arg121Gln (p.R121Q) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) AND TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Allele ID
- 213624
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.624G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.38G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-216G>A
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.362G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000200263
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs