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.2726C>G, p.Ser909Cys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170359272	169438121

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.2726C>G

PROTEIN CHANGE

p.Ser909Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0	0.0	0.0	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003811	6.528e-05	0.0	0.0	0.0	0.0	2.683e-05	0.0003333	0.002934

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.693409	Polymorphism

DBSNP ID

1 combination linked to NEK1:c.2726C>G, p.Ser909Cys

1 disease linked to NEK1:c.2726C>G, p.Ser909Cys

Amyotrophic lateral sclerosis

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