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Details for BBS1:p.Ile389=

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66293650	66526179

VARIANT EFFECT

silent

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ile389=

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	0.973556	Polymorphism

DBSNP ID

2 combinations linked to BBS1:p.Ile389=

OLI079; OLI1127

1 disease linked to BBS1:p.Ile389=

Bardet-Biedl syndrome

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