Full data view for gene HNF1A

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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VIP     

Data_av     

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Panel size     

Owner     
+/? 9 c.1747C>G r.(?) p.(Arg583Gly) Unknown - pathogenic g.121437409C>G g.120999606C>G - - HNF1A_000075 - Yamada 1997a - - Germline - - - - - DNA SEQ - - MODY - Yamada 1997a - - - - - - - - - 1 Monique Losekoot
?/? 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - VUS g.121437410G>A g.120999607G>A - - HNF1A_000075 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
?/? 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - VUS g.121437410G>A g.120999607G>A - - HNF1A_000075 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
?/? 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - VUS g.121437410G>A g.120999607G>A - - HNF1A_000075 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 Diabetes diagnosed aged 41 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 Diabetes diagnosed aged 22 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 Diabetes diagnosed aged 28 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - 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 32 years M - Ireland white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 Diabetes diagnosed aged 15 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 - F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 - M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - 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 M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-/- 9 c.1748G>A r.(?) p.(Arg583Gln) Unknown - benign g.121437410G>A g.120999607G>A - - HNF1A_000075 - 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 39 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
-?/. - c.1748G>A r.(?) p.(Arg583Gln) Unknown - likely benign g.121437410G>A g.120999607G>A HNF1A(NM_000545.5):c.1748G>A (p.(Arg583Gln)), HNF1A(NM_001306179.1):c.1769G>A (p.R590Q) - HNF1A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1748G>A r.(?) p.(Arg583Gln) Unknown - VUS g.121437410G>A g.120999607G>A HNF1A(NM_000545.5):c.1748G>A (p.(Arg583Gln)), HNF1A(NM_001306179.1):c.1769G>A (p.R590Q) - HNF1A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1748G>A r.(?) p.(Arg583Gln) Unknown - likely benign g.121437410G>A - HNF1A(NM_000545.5):c.1748G>A (p.(Arg583Gln)), HNF1A(NM_001306179.1):c.1769G>A (p.R590Q) - HNF1A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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