Details for Combination OLI1616

VARIANTS SLC4A1:c.2582T>A, p.Phe861Tyr in Heterozygous form; HOGA1:c.845G>A, p.Arg282His in Heterozygous form; HOGA1:c.812G>A, p.Arg271His in Heterozygous form
GENE COMBINATION HOGA1; SLC4A1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 308990; 310468; 300009; 300555; 300554
DISEASES Dent disease
REFERENCES 37306718
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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