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Details for PRF1:c.853_855delAAG, p.Lys285del

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72358621	70598865

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GCTT

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.853_855delAAG

PROTEIN CHANGE

p.Lys285del

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
3.183e-05	0.0	0.0	0.0004962	0.0	0.0	1.76e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.263292	Disease causing

DBSNP ID

1 combination linked to PRF1:c.853_855delAAG, p.Lys285del

1 disease linked to PRF1:c.853_855delAAG, p.Lys285del

Primary hemophagocytic lymphohistiocytosis

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