All variants in the HNF1A gene

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

27 entries on 1 page. Showing entries 1 - 27.
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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.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - Frayling 1997a - - Germline - - - 0 - Monique Losekoot
+/? 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - Glucksmann 1997 - - Germline - - - 0 - Monique Losekoot
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/. - c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T - HNF1A(NM_000545.5):c.391C>T (p.(Arg131Trp)) - HNF1A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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