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Details for SCN1A:c.3899C>T, p.Thr1300Ile

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
166866332	166009822

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3899C>T

PROTEIN CHANGE

p.Thr1300Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001559	0.0001854	0.0004649	0.0	0.0	0.0	0.0001329	0.000164	0.0001308

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.619094	Disease causing

DBSNP ID

1 combination linked to SCN1A:c.3899C>T, p.Thr1300Ile

1 disease linked to SCN1A:c.3899C>T, p.Thr1300Ile

Juvenile myoclonic epilepsy

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