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Details for CACNA1S:p.Arg498Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
201047133	201078005

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg498Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005607	0.0001845	0.000636	0.0	5.437e-05	4.619e-05	0.0009669	0.0006515	0.0

ESP
AA	EA
0.0	0.001279

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.217097	Disease causing

DBSNP ID

1 combination linked to CACNA1S:p.Arg498Leu

1 disease linked to CACNA1S:p.Arg498Leu

Recurrent exertional rhabdomyolysis

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