rs28933973

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation

Make rs28933973(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70599048

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs28933973
dbSNP (classic)	rs28933973
ClinGen	rs28933973
ebi	rs28933973
HLI	rs28933973
Exac	rs28933973
Gnomad	rs28933973
Varsome	rs28933973
LitVar	rs28933973
Map	rs28933973
PheGenI	rs28933973
Biobank	rs28933973
1000 genomes	rs28933973
hgdp	rs28933973
ensembl	rs28933973
geneview	rs28933973
scholar	rs28933973
google	rs28933973
pharmgkb	rs28933973
gwascentral	rs28933973
openSNP	rs28933973
23andMe	rs28933973
SNPshot	rs28933973
SNPdbe	rs28933973
MSV3d	rs28933973
GWAS Ctlg	rs28933973

Max Magnitude

3

c.673C>T (p.Arg225Trp)

OMIM	170280
Desc	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant	0004
Related	also

ClinVar
Risk	rs28933973(T;T)
Alt	rs28933973(T;T)
Reference	Rs28933973(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2 Familial hemophagocytic lymphohistiocytosis
Reversed	1
HGVS	NC_000010.10:g.72358804G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014711.22, RCV000367148.1,