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Details for KIF5A:c.2714G>A, p.Arg905His

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
57974914	57581131

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2714G>A

PROTEIN CHANGE

p.Arg905His

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
1.196e-05	0.0	0.0	0.0	0.0	0.0	2.649e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.34948	Polymorphism

DBSNP ID

1 combination linked to KIF5A:c.2714G>A, p.Arg905His

1 disease linked to KIF5A:c.2714G>A, p.Arg905His

Amyotrophic lateral sclerosis

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