Details for Combination OLI1644

VARIANTS COL4A5:c.2683delA, p.Lys895LysfsTer6 in Hemizygous form; COL4A3:c.3419-1G>C, in Heterozygous form
GENE COMBINATION COL4A3; COL4A5
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 203780; 104200; 301050
DISEASES Alport syndrome
REFERENCES 37097554
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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