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Details for TBK1:c.349C>T, p.Arg117Ter

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
64858234	64464454

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.349C>T

PROTEIN CHANGE

p.Arg117Ter

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
8.337e-06	0.0	0.0	0.0	0.0	0.0	9.031e-06	0.0	3.534e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.15477	Disease causing

DBSNP ID

1 combination linked to TBK1:c.349C>T, p.Arg117Ter

1 disease linked to TBK1:c.349C>T, p.Arg117Ter

Frontotemporal dementia

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