Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Val154Met (p.V154M)
(
ENST00000440083.7,
ENST00000540022.5,
ENST00000162749.7 )
TNFRSF1A p.Val154Met (p.V154M) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS) Multiple sclerosis, susceptibility to, 5
- Source Database
- ClinVar
- Description
- NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) AND multiple conditions
- ClinVar Allele ID
- 870267
- ClinVar RefSeq Alternation Syntax
- NR_144351.2:n.722G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346092.2:c.-118G>A
- ClinVar RefSeq Alternation Syntax
- NM_001065.4:c.460G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346091.2:c.136G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002491353
- ClinVar Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- ClinVar Disease
- Multiple sclerosis, susceptibility to, 5
- Observed Origin Sample
- unknown
Drugs