Annotation Detail
Information
- Associated Genes
- U2AF1
- Associated Variants
-
U2AF1 p.Gln157Pro (p.Q157P)
(
ENST00000291552.9,
ENST00000380276.6,
ENST00000459639.5 )
U2AF1 p.Gln157Pro (p.Q157P) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) AND not provided
- ClinVar Allele ID
- 362903
- ClinVar RefSeq Alternation Syntax
- NM_001025204.2:c.251A>C
- ClinVar RefSeq Alternation Syntax
- NM_006758.3:c.470A>C
- ClinVar RefSeq Alternation Syntax
- NM_001025203.1:c.470A>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-03-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003321588
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs