Details for Combination OLI150

VARIANTS NODAL:IVS2-1G>C, in Heterozygous form; CFC1:c.61A>C, p.Asn21His in Heterozygous form; CFC1:c.140G>A, p.Arg47Gln in Heterozygous form
GENE COMBINATION CFC1; NODAL
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Transposition of the great arteries
REFERENCES 19933292
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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