Details for Combination OLI1376

VARIANTS FGFR1:c.1037_1038delCT, p.Ser346TyrfsTer61 in Heterozygous form; DCC:c.619A>G, p.Ile207Val in Heterozygous form
GENE COMBINATION DCC; FGFR1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 228300
DISEASES Hypogonadotropic hypogonadism with Fertile Eunuch phenotype
REFERENCES 36407308
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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