Details for FZD4:c.1589G>A, p.Gly530Glu

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8666220986951167
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FZD4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_012193.3
CDNA CHANGE c.1589G>A
PROTEIN CHANGE p.Gly530Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0050.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0001670.00.00.00.0022830.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.231133Disease causing
DBSNP ID rs201256460
1 combination linked to FZD4:c.1589G>A, p.Gly530Glu OLI308
1 disease linked to FZD4:c.1589G>A, p.Gly530Glu Familial exudative vitreoretinopathy
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