Details for Combination OLI001

VARIANTS ALAD:c.36C>G, p.Phe12Leu in Heterozygous form; CPO:c.835A>G, p.Arg279Gly in Heterozygous form
GENE COMBINATION ALAD; CPO
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY European/Caucasian
OMIM IDS 121300
DISEASES Hereditary coproporphyria
REFERENCES 16398658
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


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