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 IQCB1:c.775C>T, p.Arg259Cys

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
121516066	121797219

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.775C>T

PROTEIN CHANGE

p.Arg259Cys

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
0.0002872	0.0	0.0	0.0	0.0	0.0	1.762e-05	0.0001638	0.002259

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.939929	Polymorphism

DBSNP ID

2 combinations linked to IQCB1:c.775C>T, p.Arg259Cys

OLI1654; OLI1655

1 disease linked to IQCB1:c.775C>T, p.Arg259Cys

Bardet-Biedl syndrome

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