Details for Combination OLI1027

VARIANTS HNF1A:c.685C>T, p.Arg229Ter in Heterozygous form; Copy Number Variant deletion on chromosome 17 of the whole gene in the gene HNF1B in Heterozygous form
GENE COMBINATION HNF1A; HNF1B
OLIGOGENIC EFFECT Dual Molecular Diagnosis
ETHNICITY European/Caucasian
OMIM IDS 125850; 606394; 606391; 612225; 606392; 613375; 610508; 613370; 616511; 125851; 616329; 609812; 600496
DISEASES MODY
REFERENCES 34161864
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
11


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