Details for Combination OLI1573

VARIANTS CHD7:c.1030G>A, p.Val344Ile in Heterozygous form; SLC29A3:c.707C>T, p.Thr236Met in Heterozygous form
GENE COMBINATION CHD7; 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
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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