Details for Combination OLI1649

VARIANTS USH1G:c.1162G>T, p.Glu388Ter in Heterozygous form; ADGRV1:c.13418T>A, p.Ile4473Asn in Heterozygous form
GENE COMBINATION ADGRV1; USH1G
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 37893031
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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