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Details for BBS1:c.1447C>T, p.Arg483Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66297397	66529926

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1447C>T

PROTEIN CHANGE

p.Arg483Ter

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
1.25e-05	0.0	0.0	0.0	0.0	0.0	2.697e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.090361	Disease causing

DBSNP ID

1 combination linked to BBS1:c.1447C>T, p.Arg483Ter

1 disease linked to BBS1:c.1447C>T, p.Arg483Ter

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