Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Ser487Asn (p.S487N)
(
ENST00000544413.2,
ENST00000541395.5,
ENST00000257555.11,
ENST00000400024.6 )
HNF1A p.Ser487Asn (p.S487N) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- nonpapillary renal cell carcinoma
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) AND Nonpapillary renal cell carcinoma
- ClinVar Allele ID
- 134676
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1460G>A
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1460G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003315669
- ClinVar Disease
- Nonpapillary renal cell carcinoma
- Observed Origin Sample
- germline
Drugs