Details for Combination OLI982

VARIANTS LAMA2:c.379A>G, p.Thr127Ala in Heterozygous form; LOXL4:c.1684_1686del, p.Glu562del in Heterozygous form
GENE COMBINATION LAMA2; LOXL4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 256300
DISEASES Congenital nephrotic syndrome
REFERENCES 34565340
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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