Annotation Detail
Information
- Associated Genes
- UBR1
- Associated Variants
-
UBR1 p.Thr1097Met (p.T1097M)
(
ENST00000290650.9 )
UBR1 p.Thr1097Met (p.T1097M) ( ENST00000290650.9 ) - Associated Disease
- Johanson-Blizzard syndrome
- Source Database
- ClinVar
- Description
- NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) AND Johanson-Blizzard syndrome
- ClinVar Allele ID
- 237344
- ClinVar RefSeq Alternation Syntax
- NM_174916.3:c.3290C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-03-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003137831
- ClinVar Disease
- Johanson-Blizzard syndrome
- Observed Origin Sample
- germline
Drugs