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Details for PRRT2:c.649dupC, p.Arg217ProfsTer8

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
29825016	29813695

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CC

TRANSCRIPT

CDNA CHANGE

c.649dupC

PROTEIN CHANGE

p.Arg217ProfsTer8

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.209864	Disease causing

DBSNP ID

1 combination linked to PRRT2:c.649dupC, p.Arg217ProfsTer8

1 disease linked to PRRT2:c.649dupC, p.Arg217ProfsTer8

Benign familial infantile epilepsy

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