rs28933374

Orientation

minus

Stabilized

minus

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

Make rs28933374(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70598687

Gene

PRF1

is a	snp
is	mentioned by
dbSNP	rs28933374
dbSNP (classic)	rs28933374
ClinGen	rs28933374
ebi	rs28933374
HLI	rs28933374
Exac	rs28933374
Gnomad	rs28933374
Varsome	rs28933374
LitVar	rs28933374
Map	rs28933374
PheGenI	rs28933374
Biobank	rs28933374
1000 genomes	rs28933374
hgdp	rs28933374
ensembl	rs28933374
geneview	rs28933374
scholar	rs28933374
google	rs28933374
pharmgkb	rs28933374
gwascentral	rs28933374
openSNP	rs28933374
23andMe	rs28933374
SNPshot	rs28933374
SNPdbe	rs28933374
MSV3d	rs28933374
GWAS Ctlg	rs28933374

Max Magnitude

3

c.1034C>T (p.Pro345Leu)

OMIM	170280
Desc	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant	0006
Related	also

ClinVar
Risk	rs28933374(A;A) rs28933374(T;T)
Alt	rs28933374(A;A) rs28933374(T;T)
Reference	Rs28933374(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis
Variation	info
Gene	PRF1
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 2
Reversed	1
HGVS	NC_000010.10:g.72358443G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014713.24,