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Details for UBQLN2:p.Gln460Arg

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
56591685	56565252

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gln460Arg

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.637612	None

DBSNP ID

1 combination linked to UBQLN2:p.Gln460Arg

1 disease linked to UBQLN2:p.Gln460Arg

Amyotrophic lateral sclerosis

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