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Details for NEK1:c.89A>G, p.Tyr30Cys

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170523693	169602542

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.89A>G

PROTEIN CHANGE

p.Tyr30Cys

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
1.213e-05	0.0	0.0	0.0	0.0	0.0	2.67e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.269725	Disease causing

DBSNP ID

1 combination linked to NEK1:c.89A>G, p.Tyr30Cys

1 disease linked to NEK1:c.89A>G, p.Tyr30Cys

Amyotrophic lateral sclerosis

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