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Details for BBS1:c.1285dup, p.Arg429ProfsTer72

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66294223	66526752

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CC

TRANSCRIPT

CDNA CHANGE

c.1285dup

PROTEIN CHANGE

p.Arg429ProfsTer72

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
None	None	4.633072	Disease causing

DBSNP ID

1 combination linked to BBS1:c.1285dup, p.Arg429ProfsTer72

1 disease linked to BBS1:c.1285dup, p.Arg429ProfsTer72

Bardet-Biedl syndrome

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