All variants in the HNF1A gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.394G>A r.(?) p.(Glu132Lys) - pathogenic g.121426703G>A g.120988900G>A - - HNF1A_000394 - Frayling 2001. Diabetes 50(Suppl 1):S94-100;Pearson 2007. PLoS Med, 4:e118. - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.394G>A r.(?) p.(Glu132Lys) - pathogenic g.121426703G>A g.120988900G>A - - HNF1A_000394 - Frayling 2001. Diabetes 50(Suppl 1):S94-100;Pearson 2007. PLoS Med, 4:e118. - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.394G>A r.(?) p.(Glu132Lys) - pathogenic g.121426703G>A g.120988900G>A - - HNF1A_000394 - Frayling 2001. Diabetes 50(Suppl 1):S94-100;Pearson 2007. PLoS Med, 4:e118. - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.394G>A r.(?) p.(Glu132Lys) - pathogenic g.121426703G>A g.120988900G>A - - HNF1A_000394 - Frayling 2001. Diabetes 50(Suppl 1):S94-100;Pearson 2007. PLoS Med, 4:e118. - - Germline - - - 0 - Kevin Colclough
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