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Details for PYGM:c.1159C>T, p.Arg387Cys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
64521431	64753959

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1159C>T

PROTEIN CHANGE

p.Arg387Cys

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
4.285e-06	0.0	0.0	0.0	0.0	0.0	9.551e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.289511	Disease causing

DBSNP ID

1 combination linked to PYGM:c.1159C>T, p.Arg387Cys

1 disease linked to PYGM:c.1159C>T, p.Arg387Cys

Recurrent exertional rhabdomyolysis

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