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Details for CACNA1C:c.5747A>G, p.Gln1916Arg

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
2791769	2682603

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.5747A>G

PROTEIN CHANGE

p.Gln1916Arg

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
Tolerated	Benign	-0.925516	Polymorphism

DBSNP ID

1 combination linked to CACNA1C:c.5747A>G, p.Gln1916Arg

1 disease linked to CACNA1C:c.5747A>G, p.Gln1916Arg

Early repolarization syndrome

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