Details for Combination OLI1212

VARIANTS MYH7:c.4031G>A, p.Arg1344Gln in Heterozygous form; TNNT2:c.430C>T, p.Arg144Trp in Heterozygous form
GENE COMBINATION MYH7; TNNT2
OLIGOGENIC EFFECT Unknown
ETHNICITY Japanese
OMIM IDS 611878; 615396; 300580; 601494; 615092; 609470; 613426; 615373; 601493; 613424; 617760; 604169; 255310
DISEASES Left ventricular noncompaction
REFERENCES 34853230
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
00


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