Details for FZD4:c.481G>C, p.Gly161Arg

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8666331786952275
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FZD4
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.481G>C
PROTEIN CHANGE p.Gly161Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.71703Disease causing
DBSNP ID NA
1 combination linked to FZD4:c.481G>C, p.Gly161Arg OLI1258
1 disease linked to FZD4:c.481G>C, p.Gly161Arg Familial exudative vitreoretinopathy
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