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Details for KIF5A:c.2272G>A, p.Glu758Lys

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
57970617	57576834

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2272G>A

PROTEIN CHANGE

p.Glu758Lys

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
0.0006603	0.0003076	0.0006071	0.0	0.0	4.627e-05	0.001178	0.0008146	0.0

ESP
AA	EA
0.000227	0.001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.760467	Polymorphism

DBSNP ID

1 combination linked to KIF5A:c.2272G>A, p.Glu758Lys

1 disease linked to KIF5A:c.2272G>A, p.Glu758Lys

Amyotrophic lateral sclerosis

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