Details for FZD4:c.1250G>A, p.Arg417Gln

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8666254886951506
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE FZD4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_012193.3
CDNA CHANGE c.1250G>A
PROTEIN CHANGE p.Arg417Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.193e-050.00.00.00.00.01.758e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.384394Disease causing
DBSNP ID rs80358294
1 combination linked to FZD4:c.1250G>A, p.Arg417Gln OLI419
1 disease linked to FZD4:c.1250G>A, p.Arg417Gln Familial exudative vitreoretinopathy
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