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Details for TBK1:c.1069C>T, p.Arg357Ter

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
64878159	64484379

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1069C>T

PROTEIN CHANGE

p.Arg357Ter

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
7.966e-06	0.0	0.0	0.0	0.0	0.0	1.762e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.795062	Disease causing

DBSNP ID

1 combination linked to TBK1:c.1069C>T, p.Arg357Ter

1 disease linked to TBK1:c.1069C>T, p.Arg357Ter

Amyotrophic lateral sclerosis

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