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Details for NEK1:c.3301C>T, p.Arg1073Cys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170327820	169406669

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3301C>T

PROTEIN CHANGE

p.Arg1073Cys

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
2.442e-05	0.0	0.0	0.0	0.0	0.0	1.785e-05	0.0	0.0001337

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.303168	Polymorphism

DBSNP ID

1 combination linked to NEK1:c.3301C>T, p.Arg1073Cys

1 disease linked to NEK1:c.3301C>T, p.Arg1073Cys

Amyotrophic lateral sclerosis

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