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Details for TBK1:c.1892_1894del, p.Leu631del

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
64890967	64497187

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

GTTA

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1892_1894del

PROTEIN CHANGE

p.Leu631del

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.109514	Polymorphism

DBSNP ID

1 combination linked to TBK1:c.1892_1894del, p.Leu631del

1 disease linked to TBK1:c.1892_1894del, p.Leu631del

Amyotrophic lateral sclerosis

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