Full data view for gene HNF1A

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

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Owner     
+/? 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - Frayling 1997a - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a - - - - - - - - - 1 Monique Losekoot
+/? 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - Glucksmann 1997 - - Germline - - - - - DNA SEQ - - MODY - Glucksmann 1997 - - - - - - - - - 1 Monique Losekoot
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 9 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 16 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 31 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 22 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 9 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 17 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 15 years F - Scotland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 13 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 18 years F - Northern Ireland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 21 years M - Northern Ireland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - F - Northern Ireland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 7 years F - Hungary white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 13 years F - Serbia white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 20 years F - Serbia white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - M - Serbia white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 30 years M - Serbia white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 21 years F - Scotland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 18 years M - Ireland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 12 years F - Ireland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 14 years F - Ireland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 12 years F - Ireland white - - - - 1 Kevin Colclough
+/+ 2 c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T g.120988897C>T - - HNF1A_000111 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 15 years F - Australia white - - - - 1 Kevin Colclough
+/. - c.391C>T r.(?) p.(Arg131Trp) Unknown - pathogenic g.121426700C>T - HNF1A(NM_000545.5):c.391C>T (p.(Arg131Trp)) - HNF1A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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