Details for Combination OLI1613

VARIANTS SLC4A1:c.388G>A, p.Gly130Arg in Heterozygous form; SLC34A1:c.80C>T, p.Thr27Met in Heterozygous form
GENE COMBINATION SLC34A1; SLC4A1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 310468; 308990; 300555; 300554; 300009
DISEASES Dent disease
REFERENCES 37306718
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


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