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Details for SCN5A:c.3578G>A, p.Arg1193Gln

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
38616876	38575385

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3578G>A

PROTEIN CHANGE

p.Arg1193Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0124	0.0	0.0014	0.0585	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005351	6.644e-05	0.0002971	0.0	0.06191	0.0009509	0.001112	0.003868	0.0006812

ESP
AA	EA
0.0	0.001279

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.814004	Polymorphism

DBSNP ID

1 combination linked to SCN5A:c.3578G>A, p.Arg1193Gln

1 disease linked to SCN5A:c.3578G>A, p.Arg1193Gln

Early repolarization syndrome

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