Details for Combination OLI805

VARIANTS SCNN1A:c.944+35G>A, in Heterozygous form; SCNN1B:c.879C>T, p.Phe293= in Heterozygous form
GENE COMBINATION SCNN1A; SCNN1B
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 219700
DISEASES Cystic fibrosis
REFERENCES 23837941
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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