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 RPGRIP1:c.2669G>C, p.Arg890Pro

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
21794291	21326132

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2669G>C

PROTEIN CHANGE

p.Arg890Pro

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
4.19e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	3.509e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.121032	Polymorphism

DBSNP ID

1 combination linked to RPGRIP1:c.2669G>C, p.Arg890Pro

1 disease linked to RPGRIP1:c.2669G>C, p.Arg890Pro

Bardet-Biedl syndrome

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