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 BBS10:c.1090delA, p.Asn364ThrfsTer5

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
76740673	76346893

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GT

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1090delA

PROTEIN CHANGE

p.Asn364ThrfsTer5

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
6.784e-05	0.0	0.0	0.001489	0.0	0.0	1.761e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.249977	Disease causing

DBSNP ID

1 combination linked to BBS10:c.1090delA, p.Asn364ThrfsTer5

1 disease linked to BBS10:c.1090delA, p.Asn364ThrfsTer5

Bardet-Biedl syndrome

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