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Details for NEK1:c.782G>A, p.Arg261His

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170506525	169585374

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.782G>A

PROTEIN CHANGE

p.Arg261His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0029	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002293	0.0005824	0.00102	0.00219	0.0	0.001208	0.003921	0.001497	0.0008849

ESP
AA	EA
0.0008206	0.003795

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.356575	Disease causing

DBSNP ID

2 combinations linked to NEK1:c.782G>A, p.Arg261His

1 disease linked to NEK1:c.782G>A, p.Arg261His

Amyotrophic lateral sclerosis

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