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Details for PRF1:c.305G>T, p.Cys102Phe

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72360354	70600598

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.305G>T

PROTEIN CHANGE

p.Cys102Phe

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.876019	Disease causing

DBSNP ID

1 combination linked to PRF1:c.305G>T, p.Cys102Phe

1 disease linked to PRF1:c.305G>T, p.Cys102Phe

Primary hemophagocytic lymphohistiocytosis

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