Details for CEP290:c.7311_7313delGAA, p.Lys2437del

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
884430887None
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CEP290
REFERENCE ALLELE ATTC
ALTERNATE ALLELE A
TRANSCRIPT NM_025114.4
CDNA CHANGE c.7311_7313delGAA
PROTEIN CHANGE p.Lys2437del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to CEP290:c.7311_7313delGAA, p.Lys2437del OLI1452
1 disease linked to CEP290:c.7311_7313delGAA, p.Lys2437del Bardet-Biedl syndrome
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