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Details for GBE1:c.1570C>T, p.Arg524Ter

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
81627124	81577973

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1570C>T

PROTEIN CHANGE

p.Arg524Ter

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
3.696e-05	0.0	0.0	0.0	0.0	0.0	7.175e-05	0.0	3.385e-05

ESP
AA	EA
0.0002567	0.0001204

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.156133	Disease causing

DBSNP ID

1 combination linked to GBE1:c.1570C>T, p.Arg524Ter

1 disease linked to GBE1:c.1570C>T, p.Arg524Ter

Recurrent exertional rhabdomyolysis

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