Full data view for gene HNF1A

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

20 entries on 1 page. Showing entries 1 - 20.
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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     
+/. - c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A HNF1A(NM_000545.5):c.608G>A (p.(Arg203His)) - HNF1A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 29 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 15 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 32 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 8 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 29 years M - Scotland white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 18 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 18 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 30 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 28 years F - Wales white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - F - Wales white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 14 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 30 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 55 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. Diabetes diagnosed aged 33 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.608G>A r.(?) p.(Arg203His) Unknown - pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+?/. - c.608G>A r.(?) p.(Arg203His) Parent #1 - likely pathogenic g.121431404G>A g.120993601G>A - - HNF1A_000137 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587780357 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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