All variants in the HNF1A gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/+ 1i c.326+1G>A r.spl p.? - pathogenic g.121416898G>A g.120979095G>A - - HNF1A_000246 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 1i c.326+1G>A r.spl p.? - pathogenic g.121416898G>A g.120979095G>A - - HNF1A_000246 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+/+ 1i c.326+1G>A r.spl p.? - pathogenic g.121416898G>A g.120979095G>A - - HNF1A_000246 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
+?/. - c.326+1G>A r.spl? p.? - likely pathogenic g.121416898G>A - HNF1A(NM_000545.5):c.326+1G>A (p.?) - HNF1A_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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