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Details for BBS9:c.2336T>A, p.Leu779Gln

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
33573603	33533991

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2336T>A

PROTEIN CHANGE

p.Leu779Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0068	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004772	0.00689	0.0002024	0.0	0.0	0.0	0.0	0.0001629	0.0

ESP
AA	EA
0.006582	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.086153	Polymorphism

DBSNP ID

1 combination linked to BBS9:c.2336T>A, p.Leu779Gln

1 disease linked to BBS9:c.2336T>A, p.Leu779Gln

Bardet-Biedl syndrome

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