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Details for BBS5:c.751A>G, p.Asn251Asp

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
170356065	169499555

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.751A>G

PROTEIN CHANGE

p.Asn251Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001066	0.0003077	0.001215	0.0	0.0	0.0001386	0.001513	0.001468	0.001209

ESP
AA	EA
0.0006809	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.73111	Polymorphism

DBSNP ID

1 combination linked to BBS5:c.751A>G, p.Asn251Asp

1 disease linked to BBS5:c.751A>G, p.Asn251Asp

Bardet-Biedl syndrome

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