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Details for PHKA1:p.Leu718Phe

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
71839141	72619291

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Leu718Phe

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.596109	None

DBSNP ID

1 combination linked to PHKA1:p.Leu718Phe

1 disease linked to PHKA1:p.Leu718Phe

Recurrent exertional rhabdomyolysis

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