Details for CEP290:c.829G>C, p.Glu277Gln

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
8852349488129717
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CEP290
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_025114.4
CDNA CHANGE c.829G>C
PROTEIN CHANGE p.Glu277Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01540.01210.01440.02380.02580.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.013580.0060750.010430.0014080.010750.024820.017580.013210.002806

ESP
AAEA
0.007510.01711
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.325438Polymorphism
DBSNP ID rs45502896
1 combination linked to CEP290:c.829G>C, p.Glu277Gln OLI324
1 disease linked to CEP290:c.829G>C, p.Glu277Gln Bardet-Biedl syndrome
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