Annotation Detail
Information
- Associated Genes
- RNASEL
- Associated Variants
-
RNASEL p.Arg462Gln (p.R462Q)
(
ENST00000539397.1,
ENST00000367559.7 )
RNASEL p.Arg462Gln (p.R462Q) ( ENST00000367559.7, ENST00000539397.1 ) - Associated Disease
- Hereditary cancer
- Source Database
- ClinVar
- Description
- NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) AND Hereditary cancer
- ClinVar Disease
- Hereditary cancer
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 28045
- ClinVar RefSeq Alternation Syntax
- NM_021133.4:c.1385G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003492293
Drugs