Details for FZD4:c.1463G>A, p.Gly488Asp

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8666233586951293
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FZD4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_012193.3
CDNA CHANGE c.1463G>A
PROTEIN CHANGE p.Gly488Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.19316Disease causing
DBSNP ID rs80358298
1 combination linked to FZD4:c.1463G>A, p.Gly488Asp OLI312
1 disease linked to FZD4:c.1463G>A, p.Gly488Asp Familial exudative vitreoretinopathy
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