Annotation Detail
Information
- Associated Genes
- RNF216
- Associated Variants
-
RNF216 p.Tyr539Cys (p.Y539C)
(
ENST00000389902.8,
ENST00000425013.6 )
RNF216 p.Tyr539Cys (p.Y539C) ( ENST00000389902.8, ENST00000425013.6 ) - Associated Disease
- Cerebellar ataxia-hypogonadism syndrome
- Source Database
- ClinVar
- Description
- NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) AND Cerebellar ataxia-hypogonadism syndrome
- ClinVar Allele ID
- 196434
- ClinVar RefSeq Alternation Syntax
- NM_207111.4:c.1616A>G
- ClinVar RefSeq Alternation Syntax
- NM_207116.3:c.1445A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000180795
- ClinVar Disease
- Cerebellar ataxia-hypogonadism syndrome
- Observed Origin Sample
- germline
- Pubmed
- 25841028
Drugs