Annotation Detail
Information
- Associated Genes
- TNRC6B
- Associated Variants
-
TNRC6B V16M
(
ENST00000301923.13,
ENST00000402203.5 )
TNRC6B V16M ( ENST00000301923.13, ENST00000402203.5 ) - Associated Disease
- TNRC6B-related disorder
- Source Database
- ClinVar
- Description
- NM_001024843.2(TNRC6B):c.46G>A (p.Val16Met) AND TNRC6B-related disorder
- ClinVar Allele ID
- 1305822
- ClinVar RefSeq Alternation Syntax
- NM_001024843.2:c.46G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-03-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003976162
- ClinVar Disease
- TNRC6B-related disorder
- Observed Origin Sample
- germline
Drugs