Annotation Detail
Information
- Associated Genes
- DICER1
- Associated Variants
-
DICER1 c.*3473T>C
(
ENST00000531162.7,
ENST00000526495.6,
ENST00000529720.2,
ENST00000674628.2,
ENST00000343455.8 )
DICER1 c.*3473T>C ( 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.*3473T>C AND DICER1-related tumor predisposition
- ClinVar Allele ID
- 337997
- ClinVar RefSeq Alternation Syntax
- NM_177438.3:c.*3473T>C
- ClinVar RefSeq Alternation Syntax
- NM_001195573.1:c.*3589T>C
- ClinVar RefSeq Alternation Syntax
- NM_030621.4:c.*3473T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291628.2:c.*3473T>C
- ClinVar RefSeq Alternation Syntax
- NM_001271282.3:c.*3473T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000325979
- ClinVar Disease
- DICER1-related tumor predisposition
- Observed Origin Sample
- germline
Drugs