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Details for ALS2:p.Glu697Lys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
202609062	201744339

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Glu697Lys

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
1.202e-05	0.0	0.0	0.0	0.0	0.0	1.766e-05	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.358551	Polymorphism

DBSNP ID

1 combination linked to ALS2:p.Glu697Lys

1 disease linked to ALS2:p.Glu697Lys

Amyotrophic lateral sclerosis

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