Annotation Detail
Information
- Associated Genes
- HNF1A C12orf43
- Associated Variants
-
HNF1A c.1790-24T>C
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000288757.7,
ENST00000544413.2 )
HNF1A c.1790-24T>C ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2, ENST00000288757.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_022895.3(C12orf43):c.*3112A>G AND not provided
- ClinVar Allele ID
- 666285
- ClinVar RefSeq Alternation Syntax
- NM_001286191.2:c.*3112A>G
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1769-24T>C
- ClinVar RefSeq Alternation Syntax
- NM_022895.3:c.*3112A>G
- ClinVar RefSeq Alternation Syntax
- NM_001286196.2:c.*3112A>G
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1790-24T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000832816
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs