Annotation Detail
Information
- Associated Genes
- RNF216
- Associated Variants
-
RNF216 p.Tyr539Phe (p.Y539F)
(
ENST00000389902.8,
ENST00000425013.6 )
RNF216 p.Tyr539Phe (p.Y539F) ( ENST00000389902.8, ENST00000425013.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_207111.4(RNF216):c.1616A>T (p.Tyr539Phe) AND not provided
- ClinVar Allele ID
- 1340745
- ClinVar RefSeq Alternation Syntax
- NM_001377156.1:c.1445A>T
- ClinVar RefSeq Alternation Syntax
- NM_207116.3:c.1445A>T
- ClinVar RefSeq Alternation Syntax
- NM_207111.4:c.1616A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-08-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001939893
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs