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Details for NEK1:c.1942A>G, p.Lys648Glu

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170428253	169507102

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1942A>G

PROTEIN CHANGE

p.Lys648Glu

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
9.344e-05	0.0	2.93e-05	0.0	0.0	0.0	0.0001967	0.0	0.0

ESP
AA	EA
0.0	0.0001227

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.34611	Polymorphism

DBSNP ID

1 combination linked to NEK1:c.1942A>G, p.Lys648Glu

1 disease linked to NEK1:c.1942A>G, p.Lys648Glu

Amyotrophic lateral sclerosis

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