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Details for CACNA1G:c.305G>A, p.Arg102Gln

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
48646293	50568932

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.305G>A

PROTEIN CHANGE

p.Arg102Gln

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
2.011e-05	0.0	0.0	0.0	0.0	0.0001427	1.77e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.059081	Polymorphism

DBSNP ID

1 combination linked to CACNA1G:c.305G>A, p.Arg102Gln

1 disease linked to CACNA1G:c.305G>A, p.Arg102Gln

Generalized epilepsy with febrile seizures-plus

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