Details for Combination OLI220

VARIANTS TYR:c.1037-7T>A, in Heterozygous form; OCA2:c.79G>A, p.Gly27Arg in Homozygous form
GENE COMBINATION OCA2; TYR
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Ocular albinism
REFERENCES 18326704
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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