Details for Combination OLI1578

VARIANTS MAMLD1:c.2573C>T, p.Pro858Leu in Hemizygous form; NRAS:c.35G>C, p.Gly12Ala in Heterozygous form; SHH:c.277G>A, p.Gly93Arg in Heterozygous form; RXFP2:c.184G>A, p.Ala62Thr in Heterozygous form
GENE COMBINATION MAMLD1; NRAS; RXFP2; SHH
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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