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Details for BBS1:c.1570_1572del, p.Asn524del

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66298458	66530987

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TACA

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1570_1572del

PROTEIN CHANGE

p.Asn524del

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
3.976e-06	0.0	0.0	0.0	0.0	0.0	8.79e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.772321	Polymorphism

DBSNP ID

1 combination linked to BBS1:c.1570_1572del, p.Asn524del

1 disease linked to BBS1:c.1570_1572del, p.Asn524del

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