Details for Combination OLI1686

VARIANTS KRT7:c.73C>A, p.Arg25Ser in Heterozygous form; KRT19:c.913G>A, p.Gly305Ser in Heterozygous form
GENE COMBINATION KRT19; KRT7
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 617928; 148300
DISEASES Non-Syndromic genetic keratoconus
REFERENCES 37895187
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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