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Details for SQSTM1:c.799C>T, p.Arg267Cys

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179260076	179833076

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.799C>T

PROTEIN CHANGE

p.Arg267Cys

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
1.989e-05	0.0	5.782e-05	0.0	0.0	0.0	1.759e-05	0.0	3.266e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.193714	Polymorphism

DBSNP ID

1 combination linked to SQSTM1:c.799C>T, p.Arg267Cys

1 disease linked to SQSTM1:c.799C>T, p.Arg267Cys

Amyotrophic lateral sclerosis

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