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Details for NEK1:c.1142T>A, p.Ile381Asn

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170482887	169561736

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1142T>A

PROTEIN CHANGE

p.Ile381Asn

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
5.001e-06	0.0	0.0	0.0	0.0	0.0	1.181e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.365987	Polymorphism

DBSNP ID

1 combination linked to NEK1:c.1142T>A, p.Ile381Asn

1 disease linked to NEK1:c.1142T>A, p.Ile381Asn

Amyotrophic lateral sclerosis

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