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Details for NEK1:c.3107C>G, p.Ser1036Ter

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170345819	169424668

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3107C>G

PROTEIN CHANGE

p.Ser1036Ter

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
0.0001245	0.0	0.0	0.0	0.0	0.0	0.0002748	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.235446	Disease causing

DBSNP ID

1 combination linked to NEK1:c.3107C>G, p.Ser1036Ter

1 disease linked to NEK1:c.3107C>G, p.Ser1036Ter

Amyotrophic lateral sclerosis

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