Details for Combination OLI1072

VARIANTS FGFR1:c.1418G>A, p.Arg473Glu in Homozygous form; STARD3:c.740C>T, p.Ala247Val in Homozygous form
GENE COMBINATION FGFR1; STARD3
OLIGOGENIC EFFECT Unknown
ETHNICITY Egyptian
OMIM IDS 613085; 231300; 600975; 617272; 613086
DISEASES Rare congenital non-syndromic heart malformation; 46,XY disorder of sex development
REFERENCES 33742552
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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