Details for CEP290:c.6401T>C, p.Ile2134Thr

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
8845472888060951
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CEP290
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_025114.3
CDNA CHANGE c.6401T>C
PROTEIN CHANGE p.Ile2134Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00580.00.00290.00.00890.0184

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0075770.0014210.0018630.040687.418e-050.0010540.0074130.00670.01449

ESP
AAEA
0.00083850.007544
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.393668Polymorphism
DBSNP ID NA
1 combination linked to CEP290:c.6401T>C, p.Ile2134Thr OLI622
1 disease linked to CEP290:c.6401T>C, p.Ile2134Thr Bardet-Biedl syndrome
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