Details for Combination OLI1038

VARIANTS PCDH15:c.5257C>A, p.Pro1706Thr in Heterozygous form; MYO7A:c.6626G>A, p.Arg2209Gln in Heterozygous form
GENE COMBINATION MYO7A; PCDH15
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 156000; 615008; 612926; 612922; 612924; 612925; 609814; 235400; 612923
DISEASES Atypical hemolytic uremic syndrome; Meniere Disease
REFERENCES 34391192
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
000

FUN
manualmeta
11

FINAL
manualmeta
11


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