Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Pro291Gln (p.P291Q)
(
ENST00000400024.6,
ENST00000257555.11,
ENST00000544413.2,
ENST00000541395.5 )
HNF1A p.Pro291Gln (p.P291Q) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- nonpapillary renal cell carcinoma
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) AND Nonpapillary renal cell carcinoma
- ClinVar Allele ID
- 839358
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.872C>A
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.872C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-04-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001788404
- ClinVar Disease
- Nonpapillary renal cell carcinoma
- Observed Origin Sample
- maternal
Drugs