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Details for SCN5A:c.5594G>A, p.Arg1865His

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
38592107	38550616

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5594G>A

PROTEIN CHANGE

p.Arg1865His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
8.024e-06	0.0001291	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
0.0002364	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.224275	Disease causing

DBSNP ID

1 combination linked to SCN5A:c.5594G>A, p.Arg1865His

1 disease linked to SCN5A:c.5594G>A, p.Arg1865His

Familial long QT syndrome

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