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Details for BBS1:c.1473+4A>G,

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66297427	66529956

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1473+4A>G

PROTEIN CHANGE

None

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.272808	Disease causing

DBSNP ID

1 combination linked to BBS1:c.1473+4A>G,

1 disease linked to BBS1:c.1473+4A>G,

Bardet-Biedl syndrome

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