Details for Combination OLI1389

VARIANTS TCF12:c.1491dup, p.Val498CysfsTer12 in Heterozygous form; CCDC141:c.3111A>T, p.Lys1037Asn in Heterozygous form
GENE COMBINATION CCDC141; TCF12
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 228300
DISEASES Hypogonadotropic hypogonadism with partial puberty phenotype
REFERENCES 36407308
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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