Details for Combination OLI1577

VARIANTS SLC29A3:c.1001A>G, p.Asn334Ser in Homozygous form; FANCD2:c.2255T>C, p.Ile752Thr in Heterozygous form
GENE COMBINATION FANCD2; SLC29A3
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES Syndrome with 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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