Details for ZNF408:c.892G>A, p.Gly298Ser

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
4672614246704592
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE ZNF408
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_024741.3
CDNA CHANGE c.892G>A
PROTEIN CHANGE p.Gly298Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00025510.00.00.00.0020120.08.823e-060.00.0008495

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.279271Polymorphism
DBSNP ID rs371633363
1 combination linked to ZNF408:c.892G>A, p.Gly298Ser OLI312
1 disease linked to ZNF408:c.892G>A, p.Gly298Ser Familial exudative vitreoretinopathy
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