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Details for CEP290:c.5237G>A, p.Arg1746Gln

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
88472996	88079219

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5237G>A

PROTEIN CHANGE

p.Arg1746Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0114	0.0008	0.0072	0.005	0.004	0.0429

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01064	0.001732	0.00542	0.006148	0.007235	0.002625	0.008122	0.008624	0.04366

ESP
AA	EA
0.001947	0.009708

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.86718	Polymorphism

DBSNP ID

1 combination linked to CEP290:c.5237G>A, p.Arg1746Gln

1 disease linked to CEP290:c.5237G>A, p.Arg1746Gln

Bardet-Biedl syndrome

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