Annotation Detail
Information
- Associated Genes
- DDX11
- Associated Variants
-
DDX11 p.Leu661= (p.L661=)
(
ENST00000228264.10,
ENST00000350437.8,
ENST00000542838.6,
ENST00000545668.5 )
DDX11 p.Leu661= (p.L661=) ( ENST00000228264.10, ENST00000350437.8, ENST00000542838.6, ENST00000545668.5 ) - Associated Disease
- Warsaw breakage syndrome
- Source Database
- ClinVar
- Description
- NM_030653.4(DDX11):c.1983C>T (p.Leu661=) AND Warsaw breakage syndrome
- ClinVar Allele ID
- 1245401
- ClinVar RefSeq Alternation Syntax
- NM_030653.4:c.1983C>T
- ClinVar RefSeq Alternation Syntax
- NM_001257145.2:c.1905C>T
- ClinVar RefSeq Alternation Syntax
- NM_001257144.2:c.1983C>T
- ClinVar RefSeq Alternation Syntax
- NM_152438.2:c.1983C>T
- ClinVar RefSeq Alternation Syntax
- NM_004399.3:c.1983C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001661382
- ClinVar Disease
- Warsaw breakage syndrome
- Observed Origin Sample
- germline
Drugs