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Details for JUP:c.1393C>T, p.Arg465Cys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
39919339	41763087

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1393C>T

PROTEIN CHANGE

p.Arg465Cys

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
1.991e-05	0.0	0.0	0.0	0.0	0.0	1.762e-05	0.0	9.799e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.383907	Disease causing

DBSNP ID

1 combination linked to JUP:c.1393C>T, p.Arg465Cys

1 disease linked to JUP:c.1393C>T, p.Arg465Cys

Arrhythmogenic right ventricular cardiomyopathy

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