Details for Combination OLI1143

VARIANTS LRP10:c.142C>T, p.Arg48Trp in Heterozygous form; SHOX:c.547G>A, p.Val183Ile in Heterozygous form
GENE COMBINATION LRP10; SHOX
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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