Details for Combination OLI800

VARIANTS CFTR:c.1209G>A, p.Glu403= in Heterozygous form; SCNN1A:c.1069G>A, p.Ala357Thr in Heterozygous form
GENE COMBINATION CFTR; SCNN1A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 219700
DISEASES Cystic fibrosis
REFERENCES 23837941
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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