All variants in the HNF1A gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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.341G>A r.(?) p.(Arg114His) - benign g.121426650G>A g.120988847G>A - - HNF1A_000251 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+?/+? 2 c.341G>A r.(?) p.(Arg114His) - likely pathogenic g.121426650G>A g.120988847G>A - - HNF1A_000251 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+?/+? 2 c.341G>A r.(?) p.(Arg114His) - likely pathogenic g.121426650G>A g.120988847G>A - - HNF1A_000251 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+?/+? 2 c.341G>A r.(?) p.(Arg114His) - likely pathogenic g.121426650G>A g.120988847G>A - - HNF1A_000251 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+?/+? 2 c.341G>A r.(?) p.(Arg114His) - likely pathogenic g.121426650G>A g.120988847G>A - - HNF1A_000251 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+?/+? 2 c.341G>A r.(?) p.(Arg114His) - likely pathogenic g.121426650G>A g.120988847G>A - - HNF1A_000251 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
-?/. - c.341G>A r.(?) p.(Arg114His) - likely benign g.121426650G>A - HNF1A(NM_000545.5):c.341G>A (p.(Arg114His)) - HNF1A_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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