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Details for BBS7:c.1037G>A, p.Arg346Gln

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122768559	121847404

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1037G>A

PROTEIN CHANGE

p.Arg346Gln

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
1.994e-05	0.0001231	2.894e-05	0.0	0.0	0.0	0.0	0.0	6.539e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	6.391984	Disease causing

DBSNP ID

1 combination linked to BBS7:c.1037G>A, p.Arg346Gln

1 disease linked to BBS7:c.1037G>A, p.Arg346Gln

Bardet-Biedl syndrome

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