Details for Combination OLI1103

VARIANTS GJB2:c.231G>A, p.Trp77Ter in Heterozygous form; SLC26A4:c.1337A>G, p.Gln446Arg in Heterozygous form; CDH23:c.2789C>T, p.Pro930Leu in Heterozygous form; MPDZ:c.4124T>C, p.Val1375Ala in Homozygous form
GENE COMBINATION CDH23; GJB2; MPDZ; SLC26A4
OLIGOGENIC EFFECT Unknown
ETHNICITY Pakistani
OMIM IDS N.A.
DISEASES Rare genetic deafness
REFERENCES 34946889
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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