Details for Combination OLI1099

VARIANTS TYR:c.832C>T, p.Arg278Ter in Homozygous form; OCA2:c.954G>A, p.Met318Ile in Heterozygous form
GENE COMBINATION OCA2; TYR
OLIGOGENIC EFFECT Unknown
ETHNICITY Pakistani
OMIM IDS N.A.
DISEASES Oculocutaneous albinism
REFERENCES 33800529
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11
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