Details for Combination OLI1098

VARIANTS TYR:c.1255G>A, p.Gly419Arg 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
111

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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