Annotation Detail
Information
- Associated Genes
- HNF1B LOC126862549
- Associated Variants
-
HNF1B p.Tyr250= (p.Y250=)
(
ENST00000614313.4,
ENST00000621123.4,
ENST00000613727.4,
ENST00000617811.5 )
HNF1B p.Tyr250= (p.Y250=) ( ENST00000613727.4, ENST00000614313.4, ENST00000617811.5, ENST00000621123.4 ) - Associated Disease
- Renal cysts and diabetes syndrome
- Source Database
- ClinVar
- Description
- NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) AND Renal cysts and diabetes syndrome
- ClinVar Allele ID
- 45514
- ClinVar RefSeq Alternation Syntax
- NM_001165923.4:c.672C>T
- ClinVar RefSeq Alternation Syntax
- NM_001304286.2:c.672C>T
- ClinVar RefSeq Alternation Syntax
- NM_000458.4:c.750C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2011-08-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030534
- ClinVar Disease
- Renal cysts and diabetes syndrome
- Observed Origin Sample
- germline
Drugs