Details for FZD4:c.416G>C, p.Trp139Ser

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8666338286952340
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FZD4
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.416G>C
PROTEIN CHANGE p.Trp139Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.421725Disease causing
DBSNP ID NA
1 combination linked to FZD4:c.416G>C, p.Trp139Ser OLI1259
1 disease linked to FZD4:c.416G>C, p.Trp139Ser Familial exudative vitreoretinopathy
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