Details for Combination OLI070

VARIANTS TYR:c.832C>T, p.Arg278Ter in Heterozygous form; SLC45A2:c.478G>C, p.Asp160His in Heterozygous form
GENE COMBINATION SLC45A2; TYR
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Oculocutaneous albinism
REFERENCES 23324268
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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