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Details for SCN5A:c.1715C>A, p.Ala572Asp

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
38645378	38603887

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1715C>A

PROTEIN CHANGE

p.Ala572Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0018	0.0	0.0	0.0	0.0089	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004908	0.0002584	0.0005213	0.0	0.0	0.03873	0.002953	0.005456	0.0

ESP
AA	EA
0.0002446	0.002388

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.963043	Polymorphism

DBSNP ID

1 combination linked to SCN5A:c.1715C>A, p.Ala572Asp

1 disease linked to SCN5A:c.1715C>A, p.Ala572Asp

Romano-Ward syndrome

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