All variants in the HNF1A gene

Information The variants shown are described using the NM_000545.5 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 2 c.399_405del r.(?) p.(Val134Profs*19) - pathogenic g.121426708_121426714del g.120988905_120988911del - - HNF1A_000258 - PubMed: Ellard & Colclough 2006 - - Germline - - - 0 - Kevin Colclough
Legend   How to query