Annotation Detail
Information
- Associated Genes
- RNF216
- Associated Variants
-
RNF216 p.Cys597Ter (p.C597*)
(
ENST00000389902.8,
ENST00000425013.6 )
RNF216 p.Cys597Ter (p.C597*) ( ENST00000389902.8, ENST00000425013.6 ) - Associated Disease
- Cerebellar ataxia-hypogonadism syndrome
- Source Database
- ClinVar
- Description
- NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter) AND Cerebellar ataxia-hypogonadism syndrome
- ClinVar Allele ID
- 65575
- ClinVar RefSeq Alternation Syntax
- NM_207116.3:c.1620T>A
- ClinVar RefSeq Alternation Syntax
- NM_207111.4:c.1791T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-05-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000043628
- ClinVar Disease
- Cerebellar ataxia-hypogonadism syndrome
- Observed Origin Sample
- germline
- Pubmed
- 23656588
Drugs