Details for Combination OLI1142

VARIANTS LAMC1:c.713C>T, p.Pro238Leu in Heterozygous form; MMP14:c.1237G>A, p.Asp413Asn in Heterozygous form; ZNF205:c.925C>T, p.Arg309Trp in Heterozygous form
GENE COMBINATION LAMC1; MMP14; ZNF205
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 277000; 601076
DISEASES Mayer-Rokitansky-Küster-Hauser syndrome
REFERENCES 33469725
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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