Details for Combination OLI407

VARIANTS SHH:c.1040C>A, p.Pro347Gln in Heterozygous form; DISP1:c.3287T>C, p.Met1096Thr in Heterozygous form
GENE COMBINATION DISP1; SHH
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Unknown
OMIM IDS 147250; 609637; 236100; 609408; 142945; 605934; 157170; 610828; 142946; 612530; 610829; 614226
DISEASES Holoprosencephaly
REFERENCES 26748417
SCORES
FAMmanual
3

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
33


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