Details for Combination OLI1070

VARIANTS SAMD11:c.628C>T, p.Arg210Cys in Heterozygous form; COL6A2:c.2575G>A, p.Val859Met in Heterozygous form
GENE COMBINATION COL6A2; SAMD11
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 618117; 614324; 300510; 618078; 618723; 233300
DISEASES Primary ovarian failure
REFERENCES 34803902
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

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.