This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for RPL3L:c.724C>T, p.Arg242Trp

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1997064	1947063

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.724C>T

PROTEIN CHANGE

p.Arg242Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0	0.0029	0.0	0.0089	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004262	0.001237	0.003735	0.0003992	0.0	0.0138	0.00423	0.004589	0.003626

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	1.480108	Polymorphism

DBSNP ID

1 combination linked to RPL3L:c.724C>T, p.Arg242Trp

1 disease linked to RPL3L:c.724C>T, p.Arg242Trp

Catecholaminergic polymorphic ventricular tachycardia

Found any issues with the data on this page? Report this entry.