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Details for CELSR3:c.8335C>G, p.Arg2779Gly

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
48680471	48643038

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.8335C>G

PROTEIN CHANGE

p.Arg2779Gly

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.950162	Polymorphism

DBSNP ID

1 combination linked to CELSR3:c.8335C>G, p.Arg2779Gly

1 disease linked to CELSR3:c.8335C>G, p.Arg2779Gly

Isolated anencephaly

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