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Details for CEP290:c.6727G>C, p.Glu2243Gln

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
88452716	88058939

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.6727G>C

PROTEIN CHANGE

p.Glu2243Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.076577	Polymorphism

DBSNP ID

1 combination linked to CEP290:c.6727G>C, p.Glu2243Gln

1 disease linked to CEP290:c.6727G>C, p.Glu2243Gln

Bardet-Biedl syndrome

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