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Details for SQSTM1:p.Gly262Arg

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179260061	179833061

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Gly262Arg

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
Tolerated	Possibly Damaging	3.034996	Polymorphism

DBSNP ID

1 combination linked to SQSTM1:p.Gly262Arg

1 disease linked to SQSTM1:p.Gly262Arg

Amyotrophic lateral sclerosis

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