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Details for PLEC:c.9739C>T, p.Arg3247Trp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
144994331	143920163

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.9739C>T

PROTEIN CHANGE

p.Arg3247Trp

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
0.0001528	0.0004887	0.0003492	0.0	5.612e-05	0.0	0.0001387	0.0	6.553e-05

ESP
AA	EA
0.0008112	0.0002469

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.331158	Polymorphism

DBSNP ID

1 combination linked to PLEC:c.9739C>T, p.Arg3247Trp

1 disease linked to PLEC:c.9739C>T, p.Arg3247Trp

Left ventricular noncompaction

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