Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Ser581Gly (p.S581G)
(
ENST00000544413.2,
ENST00000257555.11,
ENST00000541395.5 )
HNF1A p.Ser581Gly (p.S581G) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 ) - Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Symphalangism affecting the proximal phalanx of the 4th finger
- ClinVar Allele ID
- 45471
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1720A>G
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1741A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001775070
- Observed Origin Sample
- unknown
Drugs