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rs121912713

From SNPedia

Pi-Pittsburgh; anti-thrombin
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 5 Bleeding disorder likely
(T;T) 0 common in clinvar


Make rs121912713(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position94378561
GeneSERPINA1
is asnp
is mentioned by
dbSNPrs121912713
ebirs121912713
HLIrs121912713
Exacrs121912713
Varsomers121912713
Maprs121912713
PheGenIrs121912713
hapmaprs121912713
1000 genomesrs121912713
hgdprs121912713
ensemblrs121912713
gopubmedrs121912713
geneviewrs121912713
scholarrs121912713
googlers121912713
pharmgkbrs121912713
gwascentralrs121912713
openSNPrs121912713
23andMers121912713
23andMe allrs121912713
SNP Nexus

SNPshotrs121912713
SNPdbers121912713
MSV3drs121912713
GWAS Ctlgrs121912713
Max Magnitude5

rs121912713, better known as Met358Arg or Pi-Pittsburgh, represents a mutation in the SERPINA1 gene on chromosome 14. The rs121912713(G) allele represents a dominant mutation occurring at the active site of the alpha-1 antitrypsin (AAT) protein, in which AAT becomes a potent inhibitor of thrombin and factor XI (rather than of elastase), resulting in a bleeding disorder. For more details, see OMIM 107400.0026.

OMIM107400
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121912713(G;G)
Alt rs121912713(G;G)
Reference rs121912713(T;T)
Significance Pathogenic
Disease Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Alpha-1-antitrypsin deficiency
Variation info
Gene SERPINA1
CLNDBN Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Alpha-1-antitrypsin deficiency
Reversed 1
HGVS NC_000014.8:g.94844898A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019591.3, RCV000201860.1,


[PMID 1569192OA-icon.png] Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.


[PMID 3484756OA-icon.png] Recombinant alpha 1-antitrypsin Pittsburgh (Met 358----Arg) is a potent inhibitor of plasma kallikrein and activated factor XII fragment.


[PMID 6604220] Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder.


[PMID 8182727OA-icon.png] The molecular basis of genetic dominance.