Details for Combination OLI1612

VARIANTS SLC7A9:c.829G>A, p.Val277Met in Heterozygous form; HOGA1:c.834G>A, p.Ala278= in Homozygous form
GENE COMBINATION HOGA1; SLC7A9
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 308990; 310468; 300009; 300555; 300554
DISEASES Dent disease
REFERENCES 37306718
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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