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Details for NEK1:c.1388C>T, p.Ala463Val

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170477125	169555974

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1388C>T

PROTEIN CHANGE

p.Ala463Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0162	0.0008	0.0317	0.0	0.0497	0.0082

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.03578	0.01007	0.0242	0.02239	0.0	0.01979	0.05814	0.04093	0.01503

ESP
AA	EA
0.01023	0.05721

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.502236	Polymorphism

DBSNP ID

1 combination linked to NEK1:c.1388C>T, p.Ala463Val

1 disease linked to NEK1:c.1388C>T, p.Ala463Val

Amyotrophic lateral sclerosis

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