Details for Combination OLI203

VARIANTS HNF4A:c.379C>T, p.Arg127Trp in Heterozygous form; HNF1A:c.872dup, p.Gly292ArgfsTer25 in Heterozygous form
GENE COMBINATION HNF1A; HNF4A
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Unknown
OMIM IDS 616329; 606392; 606391; 612225; 609812; 613370; 613375; 610508; 616511; 600496; 125850; 606394; 125851
DISEASES MODY
REFERENCES 23551881
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


Found any issues with the data on this page? Report this entry.