Full data view for gene HNF1A

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

353 entries on 4 pages. Showing entries 1 - 100.
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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     

Panel size     

Owner     
+/? 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del c.872delC - HNF1A_000161 - PubMed: Vaxillaire 1997 - - Germline - - - - - DNA SEQ - - MODY - PubMed: Vaxillaire 1997 - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 13 years F - Sweden white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 17 years F - Sweden white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 15 years F - Netherlands - - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 22 years M - United Kingdom (Great Britain) - - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - F - United Kingdom (Great Britain) - - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 21 years F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 18 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 19 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 13 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 17 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 13 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 19 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 18 years F - Wales white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - 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 M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - 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 - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 16 years F - Canada white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 37 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 32 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 48 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 41 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 36 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 9 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 15 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 33 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 13 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 27 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 40 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 9 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 18 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 45 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872del r.(?) p.(Pro291Glnfs*51) Unknown - pathogenic g.121432125del g.120994322del - - HNF1A_000161 - Frayling 2001. Diabetes 50(Suppl 1):S94-100 - - Germline - - - - - DNA SEQ - - MODY - Frayling 2001. Diabetes 50(Suppl 1):S94-100 Diabetes diagnosed aged 17 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/. - c.872del r.(?) p.(Pro291GlnfsTer51) Unknown - pathogenic g.121432125del g.120994322del HNF1A(NM_000545.5):c.872del (p.(Pro291Glnfs*51)) - HNF1A_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup c.872dupC - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 16 years F - United Kingdom (Great Britain) Arabic - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 15 years M - United Kingdom (Great Britain) Asian - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 12 years F - United Kingdom (Great Britain) Asian - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 21 years F - United Kingdom (Great Britain) Asian - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 12 years F - United Kingdom (Great Britain) Asian - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 8 years F - United Kingdom (Great Britain) Asian - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 11 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 40 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 13 years M - Ireland white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 26 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 27 years M - Northern Ireland white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - M - Northern Ireland white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 16 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 21 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 16 years M - New Zealand white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - M - New Zealand white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 18 years F - Scotland white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 13 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - United Kingdom (Great Britain) Arabic - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 33 years M - United Kingdom (Great Britain) mixed - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 14 years M - United Kingdom (Great Britain) - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 14 years F - United Kingdom (Great Britain) - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 23 years M - United Kingdom (Great Britain) - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - M - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - M - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - M - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 16 years M - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - Scotland - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - United Kingdom (Great Britain) England - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - F - United Kingdom (Great Britain) - - - - - 1 Kevin Colclough
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) Unknown - pathogenic g.121432125dup g.120994322dup - - HNF1A_000161 - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. - - Germline - - - - - DNA SEQ - - MODY - Frayling 1997a. Diabetes, 46:720-725. Frayling 1997b. Human Genetics, 101:351-354. Diabetes diagnosed aged 28 years M - United Kingdom (Great Britain) - - - - - 1 Kevin Colclough
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