All variants in the HNF1A gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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.349A>G r.(?) p.(Lys117Glu) - pathogenic g.121426658A>G g.120988855A>G - - HNF1A_000104 - Yoshiuchi 1999 - - Germline - - - 0 - Monique Losekoot
+/+ 2 c.349A>G r.(?) p.(Lys117Glu) - pathogenic g.121426658A>G g.120988855A>G - - HNF1A_000104 - PubMed: Ellard 1999. - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.349A>G r.(?) p.(Lys117Glu) - pathogenic g.121426658A>G g.120988855A>G - - HNF1A_000104 - PubMed: Ellard 1999. - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.349A>G r.(?) p.(Lys117Glu) - pathogenic g.121426658A>G g.120988855A>G - - HNF1A_000104 - PubMed: Ellard 1999. - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.349A>G r.(?) p.(Lys117Glu) - pathogenic g.121426658A>G g.120988855A>G - - HNF1A_000104 - PubMed: Ellard 1999. - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.349A>G r.(?) p.(Lys117Glu) - pathogenic g.121426658A>G g.120988855A>G - - HNF1A_000104 - PubMed: Ellard 1999. - - Germline - - - 0 - Kevin Colclough
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