Annotation Detail
Information
- Associated Genes
- DICER1
- Associated Variants
-
DICER1 c.*2693A>G
(
ENST00000526495.6,
ENST00000531162.7,
ENST00000674628.2,
ENST00000343455.8,
ENST00000529720.2 )
DICER1 c.*2693A>G ( ENST00000343455.8, ENST00000526495.6, ENST00000529720.2, ENST00000531162.7, ENST00000674628.2 ) - Associated Disease
- DICER1-related tumor predisposition
- Source Database
- ClinVar
- Description
- NM_177438.3(DICER1):c.*2693A>G AND DICER1-related tumor predisposition
- ClinVar Allele ID
- 331201
- ClinVar RefSeq Alternation Syntax
- NM_177438.3:c.*2693A>G
- ClinVar RefSeq Alternation Syntax
- NM_030621.4:c.*2693A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291628.2:c.*2693A>G
- ClinVar RefSeq Alternation Syntax
- NM_001195573.1:c.*2809A>G
- ClinVar RefSeq Alternation Syntax
- NM_001271282.3:c.*2693A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-11-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000404705
- ClinVar Disease
- DICER1-related tumor predisposition
- Observed Origin Sample
- germline
Drugs