All variants in the HNF1A gene

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

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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     
+/? 1 c.19C>T r.(?) p.(Gln7*) - pathogenic g.121416590C>T g.120978787C>T - - HNF1A_000090 - PubMed: Vaxillaire 1997 - - Germline - - - 0 - Monique Losekoot
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