This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for NEK1:c.2137G>A, p.Val713Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170400556	169479405

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2137G>A

PROTEIN CHANGE

p.Val713Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009678	0.0	0.0001485	0.01173	0.000112	4.648e-05	0.000741	0.00201	0.0006087

ESP
AA	EA
0.0	0.001106

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.099152	Polymorphism

DBSNP ID

1 combination linked to NEK1:c.2137G>A, p.Val713Met

1 disease linked to NEK1:c.2137G>A, p.Val713Met

Amyotrophic lateral sclerosis

Found any issues with the data on this page? Report this entry.