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rs28940870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 type II hereditary angioedema
(A;C) 4 type II hereditary angioedema
(C;C) 0 normal
(C;T) 4 type II hereditary angioedema
(T;T) 4 type II hereditary angioedema
ReferenceGRCh38 38.1/141
Chromosome11
Position57614474
GeneSERPING1
is asnp
is mentioned by
dbSNPrs28940870
ebirs28940870
HLIrs28940870
Exacrs28940870
Varsomers28940870
Maprs28940870
PheGenIrs28940870
hapmaprs28940870
1000 genomesrs28940870
hgdprs28940870
ensemblrs28940870
gopubmedrs28940870
geneviewrs28940870
scholarrs28940870
googlers28940870
pharmgkbrs28940870
gwascentralrs28940870
openSNPrs28940870
23andMers28940870
23andMe allrs28940870
SNP Nexus

SNPshotrs28940870
SNPdbers28940870
MSV3drs28940870
GWAS Ctlgrs28940870
Max Magnitude4
rs28940870 represents two dominant (though rare) mutations in the SERPING1 gene, resulting in type II hereditary angioedema. [PMID 3178731OA-icon.png]

rs28940870(A) is also known as c.1396C>A, p.Arg466Ser, R466S, Arg444Ser and R444S; rs28940870(T) is also known as .1396C>T, p.Arg466Cys, R466C, Arg444Cys and R444C.

In October 2008, the US Food and Drug Administration (FDA) approved a C1 inhibitor human protein Cinryze to help prevent attacks in patients with hereditary angioedema.[1] In clinical trials, Cinryze was effective in preventing or decreasing the frequency of attacks in most but not all patients with hereditary angioedema, which may be caused by several different mutations, one of which is rs28940870.

OMIM606860
DescANGIOEDEMA, HEREDITARY, TYPE II
Variant0005
Relatedalso
OMIM606860
Desc
Variant0004
Relatedalso


ClinVar
Risk rs28940870(A,T;A,T)
Alt rs28940870(A,T;A,T)
Reference rs28940870(C;C)
Significance Pathogenic
Disease Hereditary C1 esterase inhibitor deficiency - dysfunctional factor not provided
Variation info
Gene SERPING1
CLNDBN Hereditary C1 esterase inhibitor deficiency - dysfunctional factor not provided
Reversed 0
HGVS NC_000011.9:g.57381947C>A; NC_000011.9:g.57381947C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000004154.2, RCV000059083.1, RCV000004153.2, RCV000059084.1,



[PMID 22994404] Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.