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 BBS1:p.Glu234Lys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66287196	66519725

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Glu234Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0283	0.1036	0.0072	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.007676	0.1052	0.004743	0.0	0.0	0.0	0.0002641	0.003422	9.799e-05

ESP
AA	EA
0.09955	0.0005821

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	4.093243	Polymorphism

DBSNP ID

1 combination linked to BBS1:p.Glu234Lys

1 disease linked to BBS1:p.Glu234Lys

Bardet-Biedl syndrome

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