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Details for CPT2:p.Ser113Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
53668099	53202427

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser113Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0008	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001392	0.0003076	0.0008962	0.007242	0.0002175	0.000231	0.001811	0.001954	0.0004573

ESP
AA	EA
0.0004539	0.00186

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.949719	Disease causing

DBSNP ID

1 combination linked to CPT2:p.Ser113Leu

1 disease linked to CPT2:p.Ser113Leu

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

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