Details for Combination OLI672

VARIANTS TTN:p.Lys22368Asn in Heterozygous form; ALPK3:p.Thr81Met in Heterozygous form; MYL2:p.Ala13Thr in Heterozygous form
GENE COMBINATION ALPK3; MYL2; TTN
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Hypertrophic cardiomyopathy
REFERENCES 28223422
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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