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Details for BBS7:c.171G>A, p.Val57=

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
122782829	121861674

VARIANT EFFECT

silent

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.171G>A

PROTEIN CHANGE

p.Val57=

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
0.0009489	0.0	0.0004055	0.01837	0.0	0.0	0.0002733	0.001308	0.0

ESP
AA	EA
0.0	0.001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.71822	Polymorphism

DBSNP ID

1 combination linked to BBS7:c.171G>A, p.Val57=

1 disease linked to BBS7:c.171G>A, p.Val57=

Bardet-Biedl syndrome

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