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Details for BBS7:c.2279T>G, p.Leu760Arg

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
66083713	65618030

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2279T>G

PROTEIN CHANGE

p.Leu760Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.575e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0004575

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.706534	Polymorphism

DBSNP ID

1 combination linked to BBS7:c.2279T>G, p.Leu760Arg

1 disease linked to BBS7:c.2279T>G, p.Leu760Arg

Bardet-Biedl syndrome

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