Annotation Detail
Information
- Associated Genes
- POLR2A LOC126862481
- Associated Variants
-
POLR2A p.Tyr891= (p.Y891=)
(
ENST00000674977.2 )
POLR2A p.Tyr891= (p.Y891=) ( ENST00000674977.2 ) - Associated Disease
- POLR2A-related disorder
- Source Database
- ClinVar
- Description
- NM_000937.5(POLR2A):c.2673C>T (p.Tyr891=) AND POLR2A-related disorder
- ClinVar Allele ID
- 3217137
- ClinVar RefSeq Alternation Syntax
- NM_000937.5:c.2673C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-11-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003979249
- ClinVar Disease
- POLR2A-related disorder
- Observed Origin Sample
- germline
Drugs