Full data view for gene HNF1A

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/+? 1 c.26A>C r.(?) p.(Gln9Pro) Unknown - likely pathogenic g.121416597A>C g.120978794A>C - - HNF1A_000240 - PubMed: Ellard & Colclough 2006 - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 Diabetes diagnosed aged 22 years F - United Kingdom (Great Britain) - - 0 - - 1 Kevin Colclough
+?/+? 1 c.26A>C r.(?) p.(Gln9Pro) Unknown - likely pathogenic g.121416597A>C g.120978794A>C - - HNF1A_000240 - PubMed: Ellard & Colclough 2006 - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Ellard & Colclough 2006 Diabetes diagnosed aged 19 years M - United Kingdom (Great Britain) - - 0 - - 1 Kevin Colclough
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