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Details for SCN5A:c.5455G>A, p.Asp1819Asn

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
38592408	38550917

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.5455G>A

PROTEIN CHANGE

p.Asp1819Asn

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
0.0002722	0.0	5.786e-05	0.0	0.0	0.0	7.069e-05	0.0001649	0.001862

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.91032	Disease causing

DBSNP ID

1 combination linked to SCN5A:c.5455G>A, p.Asp1819Asn

1 disease linked to SCN5A:c.5455G>A, p.Asp1819Asn

Familial long QT syndrome

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