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Details for NEK1:c.1021G>A, p.Ala341Thr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170483347	169562196

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1021G>A

PROTEIN CHANGE

p.Ala341Thr

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
0.001674	0.0006414	0.0009325	0.0	0.0	0.002821	0.002826	0.001452	0.0

ESP
AA	EA
0.0002839	0.002357

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.29993	Polymorphism

DBSNP ID

1 combination linked to NEK1:c.1021G>A, p.Ala341Thr

1 disease linked to NEK1:c.1021G>A, p.Ala341Thr

Amyotrophic lateral sclerosis

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