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 BBS12:p.Arg355Gln

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664111	122742956

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg355Gln

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
3.979e-06	0.0	0.0	0.0	0.0	0.0	8.798e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.889939	Disease causing

DBSNP ID

2 combinations linked to BBS12:p.Arg355Gln

2 diseases linked to BBS12:p.Arg355Gln

Alström syndrome; Bardet-Biedl syndrome

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