Annotation Detail
Information
- Associated Genes
- TNFRSF10B
- Associated Variants
-
TNFRSF10B p.Ala67Val (p.A67V)
(
ENST00000276431.9,
ENST00000347739.3 )
TNFRSF10B p.Ala67Val (p.A67V) ( ENST00000276431.9, ENST00000347739.3 ) - Associated Disease
- TNFRSF10B-related disorder
- Source Database
- ClinVar
- Description
- NM_003842.5(TNFRSF10B):c.200C>T (p.Ala67Val) AND TNFRSF10B-related disorder
- ClinVar Allele ID
- 3220637
- ClinVar RefSeq Alternation Syntax
- NM_147187.3:c.200C>T
- ClinVar RefSeq Alternation Syntax
- NM_003842.5:c.200C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003972305
- ClinVar Disease
- TNFRSF10B-related disorder
- Observed Origin Sample
- germline
Drugs