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Details for BBS2:c.661delC, p.Leu221PhefsTer25

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56540087	56506175

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

AG

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.661delC

PROTEIN CHANGE

p.Leu221PhefsTer25

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
1.99e-05	0.0	0.0	0.0	0.0	0.0001851	8.802e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.668341	Disease causing

DBSNP ID

3 combinations linked to BBS2:c.661delC, p.Leu221PhefsTer25

OLI171; OLI172; OLI173

1 disease linked to BBS2:c.661delC, p.Leu221PhefsTer25

Bardet-Biedl syndrome

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