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rs28357092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 4 possible immunodeficiency
(-;C) 3 carrier of one allele for possible 2-allele immunodeficiency mutation
(C;C) 0 common in complete genomics
(D;D) 4 possible immunodeficiency
(D;I) 3 carrier of one allele for possible 2-allele immunodeficiency mutation
(I;I) 0
ReferenceGRCh38 38.1/141
Chromosome1
Position27373182
GeneFCN3
is asnp
is mentioned by
dbSNPrs28357092
ebirs28357092
HLIrs28357092
Exacrs28357092
Varsomers28357092
Maprs28357092
PheGenIrs28357092
hapmaprs28357092
1000 genomesrs28357092
hgdprs28357092
ensemblrs28357092
gopubmedrs28357092
geneviewrs28357092
scholarrs28357092
googlers28357092
pharmgkbrs28357092
gwascentralrs28357092
openSNPrs28357092
23andMers28357092
23andMe allrs28357092
SNP Nexus

SNPshotrs28357092
SNPdbers28357092
MSV3drs28357092
GWAS Ctlgrs28357092
GMAF0.01515
Max Magnitude4
OMIM604973
Desc
Variant0001
Relatedalso

This SNP has been merged into rs532781899, but since the OMIM and 23andMe links are to this SNP, for the time being it is being retained (until OMIM and 23andMe update their records to reflect the merge).

A single publication based on a single patient concludes that carrying two copies of the deletion form of rs28357092 leads to immunodeficiency due to ficolin-3 deficiency.[PMID 19535802OA-icon.png]. To date there does not appear to be another publication replicating this finding, nor are there functional studies in mice or in vitro, and so the finding should probably be considered preliminary.


GET Evidence
FCN3-L117Shift
aa_change Leu117Shift
aa_change_short L117Shift
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0234375
summary



[PMID 23142462] A novel assay to quantitate MASP-2/ficolin-3 complexes in serum


[PMID 22848725OA-icon.png] Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.


ClinVar
Risk rs28357092(;)
Alt rs28357092(;)
Reference rs28357092(C;C)
Significance Pathogenic
Disease Immunodeficiency due to ficolin 3 deficiency
Variation info
Gene FCN3
CLNDBN Immunodeficiency due to ficolin 3 deficiency
Reversed 1
HGVS NC_000001.11:g.27373180delG
CLNSRC ClinVar OMIM Allelic Variant
CLNACC RCV000005603.2,