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Details for PRF1:c.1229G>A, p.Arg410Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72358248	70598492

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1229G>A

PROTEIN CHANGE

p.Arg410Gln

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
0.0007684	6.374e-05	0.004922	0.0	0.0	0.0005092	1.79e-05	0.0006579	9.803e-05

ESP
AA	EA
0.0002271	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.218205	Polymorphism

DBSNP ID

1 combination linked to PRF1:c.1229G>A, p.Arg410Gln

1 disease linked to PRF1:c.1229G>A, p.Arg410Gln

Familial hemophagocytic lymphohistiocytosis

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