rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype).
|
31121167 |
2019 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The majority of AATD cases are caused by the 'Z' and 'S' variants - single-nucleotide variations (SNVs) that result in amino acid substitutions of E342K and E264V.
|
31307431 |
2019 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states.
|
28668972 |
2017 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.
|
26831755 |
2016 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Findings were mostly negative but lung function in SERPINA1 (protease inhibitor (PI) Z allele, rs28929474) showed enhanced FEV1 and FVC (0.13 z-score increase in FEV1 (p=1.7 × 10(-5)) and 0.16 z-score increase in FVC (p=5.2 × 10(-8))) in PI-MZ individuals.
|
26831755 |
2016 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states.
|
27296815 |
2016 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.
|
26987331 |
2016 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD.
|
25454901 |
2015 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Fibrinogen and α1-antitrypsin in COPD exacerbations.
|
26304913 |
2015 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles.
|
26243289 |
2015 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland.
|
26672964 |
2015 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Increased outer arm and core fucose residues on the N-glycans of mutated alpha-1 antitrypsin protein from alpha-1 antitrypsin deficient individuals.
|
24328305 |
2014 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
The Z mutation alters the global structural dynamics of α1-antitrypsin.
|
25181470 |
2014 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis.
|
24518491 |
2014 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
|
23837941 |
2014 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The PiZ transgenic mouse strain expresses a human AAT (hAAT) transgene that contains the AATD-associated Glu342Lys mutation.
|
24355919 |
2014 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes.
|
24428606 |
2014 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
|
24055113 |
2013 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The Z allele (Glu342Lys) in α1-antitrypsin (AAT) deficiency is a combined deficiency and dysfunctional allele.
|
23660934 |
2013 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population.
|
23632999 |
2013 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation.
|
23858502 |
2013 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases.
|
22971141 |
2012 |
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
T |
0.800 |
CausalMutation |
CLINVAR |
Conformational properties of the disease-causing Z variant of α1-antitrypsin revealed by theory and experiment.
|
22735536 |
2012 |