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Details for SCN5A:c.4501C>G, p.Leu1501Val

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
38597188	38555697

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.4501C>G

PROTEIN CHANGE

p.Leu1501Val

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
1.989e-05	0.0	0.0	0.0	0.0	0.0	4.396e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.128888	Disease causing

DBSNP ID

1 combination linked to SCN5A:c.4501C>G, p.Leu1501Val

1 disease linked to SCN5A:c.4501C>G, p.Leu1501Val

Brugada syndrome

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