Details for Combination OLI974

VARIANTS COL4A3:c.3829G>A, p.Gly1277Ser in Heterozygous form; COL4A4:c.193G>A, p.Gly65Ser in Heterozygous form
GENE COMBINATION COL4A3; COL4A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 301050; 104200; 203780
DISEASES Alport syndrome
REFERENCES 33838161
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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