Details for Combination OLI122

VARIANTS ADGRV1:c.17137delG, p.Ala5713LeufsTer3 in Heterozygous form; PDZD7:c.2194_2203del, p.Cys732LeufsTer18 in Heterozygous form
GENE COMBINATION ADGRV1; PDZD7
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 276901; 611383; 605472
DISEASES Usher syndrome type 2
REFERENCES 20440071
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
011

FUN
manualmeta
12

FINAL
manualmeta
11


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