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 CELSR1:c.2468G>A, p.Arg823His

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
46930600	46534703

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2468G>A

PROTEIN CHANGE

p.Arg823His

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
3.588e-05	6.172e-05	2.891e-05	0.0	0.0	0.0	1.763e-05	0.0	0.0001633

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.931818	None

DBSNP ID

1 combination linked to CELSR1:c.2468G>A, p.Arg823His

1 disease linked to CELSR1:c.2468G>A, p.Arg823His

Familial bicuspid aortic valve

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