Details for Combination OLI1064

VARIANTS TP63:c.1927C>T, p.Arg643Ter in Heterozygous form; FANCA:c.1340C>T, p.Ser447Leu in Heterozygous form
GENE COMBINATION FANCA; TP63
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618723; 618078; 614324; 300510; 618117
DISEASES Primary ovarian failure
REFERENCES 34803902
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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