Details for Combination OLI678

VARIANTS SHH:c.511G>C, p.Asp171His in Heterozygous form; FAT1:p.Tyr1770Cys in Heterozygous form; NDST1:p.Arg80His in Heterozygous form
GENE COMBINATION FAT1; NDST1; SHH
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 147250; 609637; 236100; 609408; 142945; 605934; 157170; 610828; 142946; 612530; 610829; 614226
DISEASES Holoprosencephaly
REFERENCES 30508070
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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