Annotation Detail
Information
- Associated Genes
- DICER1
- Associated Variants
-
DICER1 p.Ser911Thr (p.S911T)
(
ENST00000696736.1,
ENST00000529720.2,
ENST00000527414.5,
ENST00000343455.8,
ENST00000674628.2,
ENST00000393063.6,
ENST00000541352.5,
ENST00000532939.3,
ENST00000526495.6,
ENST00000696737.1,
ENST00000531162.7 )
DICER1 p.Ser911Thr (p.S911T) ( ENST00000343455.8, ENST00000393063.6, ENST00000526495.6, ENST00000527414.5, ENST00000529720.2, ENST00000531162.7, ENST00000532939.3, ENST00000541352.5, ENST00000674628.2, ENST00000696736.1, ENST00000696737.1 ) - Associated Disease
- DICER1-related tumor predisposition
- Source Database
- ClinVar
- Description
- NM_177438.3(DICER1):c.2732G>C (p.Ser911Thr) AND DICER1-related tumor predisposition
- ClinVar Allele ID
- 2187153
- ClinVar RefSeq Alternation Syntax
- NM_001395680.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395682.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395693.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395683.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395690.1:c.2327G>C
- ClinVar RefSeq Alternation Syntax
- NR_172720.1:n.3077G>C
- ClinVar RefSeq Alternation Syntax
- NR_172716.1:n.3077G>C
- ClinVar RefSeq Alternation Syntax
- NM_001291628.2:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395681.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395692.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395679.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_030621.4:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NR_172719.1:n.3077G>C
- ClinVar RefSeq Alternation Syntax
- NR_172715.1:n.3150G>C
- ClinVar RefSeq Alternation Syntax
- NM_177438.3:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395686.1:c.2450G>C
- ClinVar RefSeq Alternation Syntax
- NR_172717.1:n.3244G>C
- ClinVar RefSeq Alternation Syntax
- NR_172718.1:n.3244G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395678.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395689.1:c.2327G>C
- ClinVar RefSeq Alternation Syntax
- NM_001271282.3:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395677.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395688.1:c.2327G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395687.1:c.2327G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395684.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001195573.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395691.1:c.2165G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395694.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395695.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395685.1:c.2732G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395697.1:c.1049G>C
- ClinVar RefSeq Alternation Syntax
- NM_001395696.1:c.2327G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-05-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003044942
- ClinVar Disease
- DICER1-related tumor predisposition
- Observed Origin Sample
- germline
Drugs