Details for Combination OLI1055

VARIANTS ERBB3:c.2269dupA, p.Thr757AsnfsTer70 in Heterozygous form; POLG:c.803G>C, p.Gly268Ala in Heterozygous form; LARS2:c.457A>C, p.Asn153His in Heterozygous form
GENE COMBINATION ERBB3; LARS2; POLG
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
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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