Details for Combination OLI1553

VARIANTS NR0B1:c.16C>A, p.His6Asn in Hemizygous form; CHD7:c.1696C>G, p.Pro566Ala in Heterozygous form
GENE COMBINATION CHD7; NR0B1
OLIGOGENIC EFFECT Unknown
ETHNICITY Algerian
OMIM IDS N.A.
DISEASES 46,XY disorder of sex development
REFERENCES 36110220
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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