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Details for TG:c.2360G>A, p.Arg787Gln

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133900412	132888167

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2360G>A

PROTEIN CHANGE

p.Arg787Gln

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
3.186e-05	0.0	0.0	0.0	0.000218	0.0	3.523e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.497478	Polymorphism

DBSNP ID

1 combination linked to TG:c.2360G>A, p.Arg787Gln

1 disease linked to TG:c.2360G>A, p.Arg787Gln

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