Details for Combination OLI1721

VARIANTS GCK:c.868G>T, p.Glu290Ter in Heterozygous form; HNF1A:c.872C>G, p.Pro291Arg in Heterozygous form
GENE COMBINATION GCK; HNF1A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 616329; 606392; 606391; 612225; 609812; 613370; 613375; 610508; 616511; 600496; 125850; 606394; 125851
DISEASES MODY
REFERENCES 37730861
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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