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Details for PRF1:c.50delT, p.Leu17ArgfsTer34

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72360608	70600852

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CA

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.50delT

PROTEIN CHANGE

p.Leu17ArgfsTer34

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.003	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002371	0.003238	0.0002121	0.0	0.0	0.0	9.746e-06	0.0	0.0

ESP
AA	EA
0.00307	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.348163	Disease causing

DBSNP ID

2 combinations linked to PRF1:c.50delT, p.Leu17ArgfsTer34

1 disease linked to PRF1:c.50delT, p.Leu17ArgfsTer34

Familial hemophagocytic lymphohistiocytosis

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