Details for Combination OLI1067

VARIANTS SAMD11:c.682_683insT, p.Pro228LeufsTer227 in Heterozygous form; HK3:c.2077A>C, p.Met693Leu in Heterozygous form
GENE COMBINATION HK3; SAMD11
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 233300; 618117; 618723; 300510; 614324; 618078
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


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