Details for Combination OLI238

VARIANTS BMPR2:c.1471C>T, p.Arg491Trp in Heterozygous form; KCNA5:c.1428del, p.Thr477ProfsTer2 in Heterozygous form
GENE COMBINATION BMPR2; KCNA5
OLIGOGENIC EFFECT Unknown
ETHNICITY African
OMIM IDS 615342; 178600
DISEASES Pulmonary arterial hypertension; Heritable pulmonary arterial hypertension
REFERENCES 25189502
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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