Details for Combination OLI1136

VARIANTS AMH:c.974A>G, p.Gln325Arg in Heterozygous form; HOXA10:c.188T>C, p.Val63Aal in Heterozygous form
GENE COMBINATION AMH; HOXA10
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
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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