Details for Combination OLI1557

VARIANTS NR5A1:c.904T>C, p.Trp302Arg in Heterozygous form; HSD17B6:c.830C>T, p.Pro277Leu in Heterozygous form; PROK2:c.96+4A>G, in Heterozygous form; SEMA3F:c.1480A>G, p.Ile494Val in Heterozygous form
GENE COMBINATION HSD17B6; NR5A1; PROK2; SEMA3F
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
011

FUN
manualmeta
00

FINAL
manualmeta
00


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