This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for BBS2:c.1659+3A>G,

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
56532346	56498434

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1659+3A>G

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0383	0.1399	0.0101	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.009214	0.122	0.006947	0.00129	5.44e-05	0.0	0.0003873	0.00506	0.0001307

ESP
AA	EA
0.1208	0.0005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.478537	Polymorphism

DBSNP ID

1 combination linked to BBS2:c.1659+3A>G,

1 disease linked to BBS2:c.1659+3A>G,

Bardet-Biedl syndrome

Found any issues with the data on this page? Report this entry.