Details for Combination OLI1373

VARIANTS COL4A5:c.1417_1418del, p.Val473GlufsTer3 in Heterozygous form; COL4A4:c.4151C>T, p.Ala1384Val in Heterozygous form
GENE COMBINATION COL4A4; COL4A5
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 203780; 104200; 301050
DISEASES Alport syndrome
REFERENCES 35419377
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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