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Details for TBK1:c.2170C>T, p.Arg724Cys

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
64895141	64501361

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2170C>T

PROTEIN CHANGE

p.Arg724Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.003	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.97e-05	0.0	0.0	0.0	0.0007072	0.0	1.759e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.227297	Disease causing

DBSNP ID

1 combination linked to TBK1:c.2170C>T, p.Arg724Cys

1 disease linked to TBK1:c.2170C>T, p.Arg724Cys

Amyotrophic lateral sclerosis

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