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:c.1645G>T, p.Glu549Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
66299163	66531692

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1645G>T

PROTEIN CHANGE

p.Glu549Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.591e-05	0.0	8.675e-05	0.0	0.0	0.0	0.0	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.561005	Disease causing

DBSNP ID

4 combinations linked to BBS1:c.1645G>T, p.Glu549Ter

OLI038; OLI139; OLI141; OLI617

3 diseases linked to BBS1:c.1645G>T, p.Glu549Ter

Hirschsprung disease; Bardet-Biedl syndrome; Retinitis pigmentosa

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