Details for Combination OLI454

VARIANTS PCDH15:c.3101G>A, p.Arg1034His in Heterozygous form; USH1G:c.1093G>A, p.Asp365Asn in Heterozygous form
GENE COMBINATION PCDH15; USH1G
OLIGOGENIC EFFECT Unknown
ETHNICITY Pakistani
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 30029624
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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