Details for Combination OLI926

VARIANTS GJA1:c.1127G>A, p.Arg376Gln in Heterozygous form; GALC:c.956A>G, p.Tyr319Cys in Heterozygous form
GENE COMBINATION GALC; GJA1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Transposition of the great arteries
REFERENCES 34670123
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
101

FUN
manualmeta
00

FINAL
manualmeta
00


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