Details for Combination OLI183

VARIANTS SCN5A:c.4501C>G, p.Leu1501Val in Heterozygous form; TRPM4:c.2531G>A, p.Gly844Asp in Heterozygous form
GENE COMBINATION SCN5A; TRPM4
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY European/Caucasian
OMIM IDS 601144; 612838; 611875; 616399; 613119; 613120; 611777; 611876; 613123
DISEASES Brugada syndrome
REFERENCES 28494446
SCORES
FAMmanual
2

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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