Details for Combination OLI1615

VARIANTS GRHPR:c.864_865delTG, p.Cys289AspfsTer22 in Heterozygous form; SLC4A1:c.823C>G, p.His275Asp in Heterozygous form
GENE COMBINATION GRHPR; SLC4A1
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
101

FUN
manualmeta
00

FINAL
manualmeta
00


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