Annotation Detail
Information
- Associated Genes
- FBXW7
- Associated Variants
-
FBXW7 p.Arg465Gly (p.R465G)
(
ENST00000281708.10,
ENST00000296555.11,
ENST00000393956.9,
ENST00000603548.6,
ENST00000603841.1 )
FBXW7 p.Arg465Gly (p.R465G) ( ENST00000281708.10, ENST00000296555.11, ENST00000393956.9, ENST00000603548.6, ENST00000603841.1 ) - Associated Disease
- B-cell chronic lymphocytic leukemia
- Source Database
- ClinVar
- Description
- NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) AND B-cell chronic lymphocytic leukemia
- ClinVar Allele ID
- 363297
- ClinVar RefSeq Alternation Syntax
- NM_001349798.2:c.1393C>G
- ClinVar RefSeq Alternation Syntax
- NM_033632.3:c.1393C>G
- ClinVar RefSeq Alternation Syntax
- NM_001013415.2:c.1039C>G
- ClinVar RefSeq Alternation Syntax
- NM_018315.5:c.1153C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000421262
- ClinVar Disease
- B-cell chronic lymphocytic leukemia
- Observed Origin Sample
- somatic
Drugs