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Details for BBS2:c.72C>A, p.Tyr24Ter

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56553703	56519791

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.72C>A

PROTEIN CHANGE

p.Tyr24Ter

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.114048	Disease causing

DBSNP ID

3 combinations linked to BBS2:c.72C>A, p.Tyr24Ter

OLI067; OLI170; OLI225

1 disease linked to BBS2:c.72C>A, p.Tyr24Ter

Bardet-Biedl syndrome

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