Details for Combination OLI604

VARIANTS MAML3:c.881A>G, p.Asn294Ser in Heterozygous form; MAMLD1:c.*126C>T, in Heterozygous form; CUL4B:c.26G>A, p.Gly9Glu in Heterozygous form; DAPK1:c.3490G>A, p.Asp1164Asn in Heterozygous form; EMX2:c.407-10C>T, in Heterozygous form; FREM2:c.9472dupC, p.Gln3160ThrfsTer6 in Heterozygous form; IGFBP2:c.685C>A, p.Gln229Lys in Heterozygous form; MAML2:c.620G>A, p.Arg207His in Heterozygous form; MYO7A:c.1798-7_1798-6delCCinsAT, in Heterozygous form; MYO7A:c.1798-4_1801delCCAGGGCGinsGGCTGCT, in Heterozygous form; NOTCH1:c.2734C>T, p.Arg912Trp in Heterozygous form; PIK3R3:c.838G>A, p.Asp280Asn in Heterozygous form; TGFBI:c.2012-5T>C, in Heterozygous form; WNT9A:c.1070G>A, p.Arg357His in Heterozygous form; WNT9B:c.134C>T, p.Pro45Leu in Heterozygous form
GENE COMBINATION CUL4B; DAPK1; EMX2; FREM2; IGFBP2; MAML2; MAML3; MAMLD1; MYO7A; NOTCH1; PIK3R3; TGFBI; WNT9A; WNT9B
OLIGOGENIC EFFECT Unknown
ETHNICITY European/caucasian
OMIM IDS N.A.
DISEASES Disorder of sex development
REFERENCES 31555317
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00
Found any issues with the data on this page? Report this entry.