Annotation Detail
Information
- Associated Genes
- U2AF1
- Associated Variants
-
U2AF1 p.Ser34Tyr (p.S34Y)
(
ENST00000459639.5,
ENST00000291552.9,
ENST00000380276.6 )
U2AF1 p.Ser34Tyr (p.S34Y) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 ) - Associated Disease
- myelodysplastic syndrome
- Source Database
- ClinVar
- Description
- NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Myelodysplastic syndrome
- ClinVar Allele ID
- 362905
- ClinVar RefSeq Alternation Syntax
- NM_006758.3:c.101C>A
- ClinVar RefSeq Alternation Syntax
- NM_001025204.2:c.-186C>A
- ClinVar RefSeq Alternation Syntax
- NM_001025203.1:c.101C>A
- 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/RCV000427463
- ClinVar Disease
- Myelodysplastic syndrome
- Observed Origin Sample
- somatic
Drugs