Annotation Detail

Information
Associated Genes
U2AF1
Associated Variants
U2AF1 p.Ser34Phe (p.S34F) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
U2AF1 p.Ser34Phe (p.S34F) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
Source Database
ClinVar
Description
NM_006758.3(U2AF1):c.101C>T (p.Ser34Phe) AND Transitional cell carcinoma of the bladder
ClinVar Allele ID
362904
ClinVar RefSeq Alternation Syntax
NM_006758.3:c.101C>T
ClinVar RefSeq Alternation Syntax
NM_001025204.2:c.-186C>T
ClinVar RefSeq Alternation Syntax
NM_001025203.1:c.101C>T
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/RCV000417769
Observed Origin Sample
somatic
Drugs