This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for PRF1:c.10C>T, p.Arg4Cys

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
72360649	70600893

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.10C>T

PROTEIN CHANGE

p.Arg4Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0028	0.003	0.0029	0.0079	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0009127	0.005594	0.0002523	0.0	0.006898	0.0	2.438e-05	0.0001986	3.794e-05

ESP
AA	EA
0.002751	0.0001172

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.219949	Polymorphism

DBSNP ID

1 combination linked to PRF1:c.10C>T, p.Arg4Cys

1 disease linked to PRF1:c.10C>T, p.Arg4Cys

Familial hemophagocytic lymphohistiocytosis

Found any issues with the data on this page? Report this entry.