Details for Combination OLI801

VARIANTS CFTR:c.1584G>A, p.Glu528= in Heterozygous form; SERPINA1:c.863A>T, p.Glu288Val in Heterozygous form
GENE COMBINATION CFTR; SERPINA1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 219700
DISEASES Cystic fibrosis
REFERENCES 23837941
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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