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Details for TREX1:c.340C>T, p.Arg114Cys

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
48508394	48466995

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.340C>T

PROTEIN CHANGE

p.Arg114Cys

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
7.979e-06	0.0	2.892e-05	0.0	0.0	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.545179	Disease causing

DBSNP ID

1 combination linked to TREX1:c.340C>T, p.Arg114Cys

1 disease linked to TREX1:c.340C>T, p.Arg114Cys

Transposition of the great arteries

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