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 CELSR2:c.8434C>T, p.Arg2812Trp

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
109815883	109273261

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.8434C>T

PROTEIN CHANGE

p.Arg2812Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001223	0.0004409	0.00106	0.0004151	0.0	9.348e-05	0.002193	0.001344	0.0

ESP
AA	EA
0.0004539	0.001745

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.03114	Polymorphism

DBSNP ID

1 combination linked to CELSR2:c.8434C>T, p.Arg2812Trp

1 disease linked to CELSR2:c.8434C>T, p.Arg2812Trp

Isolated anencephaly

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