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Details for BBS1:c.24T>C, p.Asp8=

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66278154	66510683

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.24T>C

PROTEIN CHANGE

p.Asp8=

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0044	0.0	0.0043	0.0	0.006	0.0133

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004023	0.0005567	0.001244	0.01532	0.0	0.001066	0.004934	0.003757	0.006468

ESP
AA	EA
0.0004545	0.005821

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.864619	Polymorphism

DBSNP ID

1 combination linked to BBS1:c.24T>C, p.Asp8=

1 disease linked to BBS1:c.24T>C, p.Asp8=

Bardet-Biedl syndrome

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