Details for Combination OLI1327

VARIANTS COL6A1:c.1712A>C, in Heterozygous form; LZTR1:c.1311G>A, in Heterozygous form; TTN:c.20335A>T, in Heterozygous form
GENE COMBINATION COL6A1; LZTR1; TTN
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
REFERENCES 36357925
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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