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rs28933375

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 1.8 Missense mutation in PRF1 gene, probably recessive
(G;G) 5 Familial Hemophagocytic Lymphohistiocytosis and Lymphoma
ReferenceGRCh38 38.1/141
Chromosome10
Position70598966
GenePRF1
is asnp
is mentioned by
dbSNPrs28933375
ClinGenrs28933375
ebirs28933375
HLIrs28933375
Exacrs28933375
Varsomers28933375
Maprs28933375
PheGenIrs28933375
hapmaprs28933375
1000 genomesrs28933375
hgdprs28933375
ensemblrs28933375
gopubmedrs28933375
geneviewrs28933375
scholarrs28933375
googlers28933375
pharmgkbrs28933375
gwascentralrs28933375
openSNPrs28933375
23andMers28933375
23andMe allrs28933375
SNP Nexus

SNPshotrs28933375
SNPdbers28933375
MSV3drs28933375
GWAS Ctlgrs28933375
GMAF0.005969
Max Magnitude5
OMIM170280
DescHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant0009
Relatedalso
Neighborrs28933374
Distance279
Neighborrs28933973
Distance82


ClinVar
Risk Rs28933375(G;G)
Alt Rs28933375(G;G)
Reference Rs28933375(A;A)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis Malignant lymphoma not specified
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2 Malignant lymphoma, non-Hodgkin not specified
Reversed 1
HGVS NC_000010.10:g.72358722T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014716.26, RCV000014717.26, RCV000246747.1,



GET Evidence
PRF1-N252S
aa_change Asn252Ser
aa_change_short N252S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00762223
summary