All variants in the HNF1A gene

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     

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.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - Germline - - - 0 - Kevin Colclough
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T - - HNF1A_000103 - - - - Germline - - - 0 - Lucas Santana
+/. - c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T - HNF1A(NM_000545.5):c.335C>T (p.(Pro112Leu)) - HNF1A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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