Details for Combination OLI071

VARIANTS SLC45A2:c.478G>C, p.Asp160His in Homozygous form; OCA2:c.2497G>T, p.Val833Leu in Heterozygous form
GENE COMBINATION OCA2; SLC45A2
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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