Details for Combination OLI398

VARIANTS TYR:c.1205G>A, p.Arg402Gln in Homozygous form; MITF:c.824delA, p.Glu275GlyfsTer22 in Heterozygous form
GENE COMBINATION MITF; TYR
OLIGOGENIC EFFECT True Digenic
ETHNICITY Unknown
OMIM IDS 103470
DISEASES Ocular albinism with congenital sensorineural deafness
REFERENCES 9158138
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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