Details for Combination OLI108

VARIANTS ADGRV1:c.1563dupT, p.Pro522fsTer8 in Heterozygous form; ADGRV1:c.17668_17669delAT, p.Met5890fsTer10 in Heterozygous form; WHRN:p.Ser11Arg in Heterozygous form
GENE COMBINATION ADGRV1; WHRN
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 276901; 611383; 605472
DISEASES Usher syndrome type 2
REFERENCES 21569298
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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