Details for Combination OLI1705

VARIANTS PKD2:c.2614C>T, p.Arg872Ter in Heterozygous form; PKD1:c.11494_11495del, p.Asp3832ProfsTer128 in Heterozygous form
GENE COMBINATION PKD1; PKD2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 613095; 600666; 173900
DISEASES Autosomal dominant polycystic kidney disease
REFERENCES 37628640
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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