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Details for NEK1:c.2255A>G, p.Glu752Gly

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170398454	169477303

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.2255A>G

PROTEIN CHANGE

p.Glu752Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.105	0.0802	0.085	0.1825	0.0974	0.0808

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0984	0.08106	0.05746	0.109	0.1687	0.08242	0.1093	0.1067	0.08216

ESP
AA	EA
0.07478	0.1139

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.539105	Polymorphism

DBSNP ID

3 combinations linked to NEK1:c.2255A>G, p.Glu752Gly

OLI964; OLI968; OLI970

1 disease linked to NEK1:c.2255A>G, p.Glu752Gly

Amyotrophic lateral sclerosis

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