Details for Combination OLI300

VARIANTS HSD3B2:p.Ala10Thr in Homozygous form; SRD5A2:p.Arg227Gln in Heterozygous form
GENE COMBINATION HSD3B2; SRD5A2
OLIGOGENIC EFFECT Unknown
ETHNICITY Vietnamese
OMIM IDS 300633; 300758; 146450; 300856
DISEASES Non-syndromic posterior hypospadias
REFERENCES 25605705
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
00


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