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Details for BBS2:p.Arg315Gln

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56536365	56502453

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg315Gln

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	4.695795	Polymorphism

DBSNP ID

1 combination linked to BBS2:p.Arg315Gln

1 disease linked to BBS2:p.Arg315Gln

Bardet-Biedl syndrome

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