Details for Combination OLI327

VARIANTS PKD2:c.991_992delTGinsAC, p.Cys331Thr in Heterozygous form; PKD1:p.Ser123Thr in Heterozygous form
GENE COMBINATION PKD1; PKD2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 613095; 173900; 600666
DISEASES Autosomal dominant polycystic kidney disease
REFERENCES 32457805
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


Found any issues with the data on this page? Report this entry.