Details for FZD4:c.1501_1502delCT, p.Leu501SerfsTer533

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
8666229586951253
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE FZD4
REFERENCE ALLELE AAG
ALTERNATE ALLELE A
TRANSCRIPT NM_012193.1
CDNA CHANGE c.1501_1502delCT
PROTEIN CHANGE p.Leu501SerfsTer533
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.29117Disease causing
DBSNP ID rs80358303
1 combination linked to FZD4:c.1501_1502delCT, p.Leu501SerfsTer533 OLI455
1 disease linked to FZD4:c.1501_1502delCT, p.Leu501SerfsTer533 Familial exudative vitreoretinopathy
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