Annotation Detail

Information
Associated Genes
UBR1
Associated Variants
UBR1 p.Thr1097Met (p.T1097M) ( ENST00000290650.9 )
UBR1 p.Thr1097Met (p.T1097M) ( ENST00000290650.9 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) AND not specified
ClinVar Allele ID
237344
ClinVar RefSeq Alternation Syntax
NM_174916.3:c.3290C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2016-11-07
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000504515
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs