Details for CEP290:c.3626C>G, p.Ser1209Cys

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
8848321288089435
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CEP290
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_025114.4
CDNA CHANGE c.3626C>G
PROTEIN CHANGE p.Ser1209Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.337e-050.00.00.00.00.03.052e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.842419Polymorphism
DBSNP ID rs753350609
1 combination linked to CEP290:c.3626C>G, p.Ser1209Cys OLI244
1 disease linked to CEP290:c.3626C>G, p.Ser1209Cys Joubert syndrome
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