View all transcript variants in gene HNF1A

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

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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
?/? c.1522G>A p.(Glu508Lys) missense_variant - 8/10 possibly_damaging(0.646) r.(?) deleterious(0.01) subst g.121437091G>A - 4.110 - HNF1A_000001 - - ; - - - LOVD
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