SERPINA1 Chromosome 14

Serpin family A member 1
112 variants 112 Health Risk

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What This Gene Does
The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000197249
Associated Conditions (59)
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder
Inborn genetic diseases
PI CHRISTCHURCH
Hepatocellular carcinoma
Cervical cancer
Lung cancer
Familial cancer of breast
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
PI F
PI Z
PI Z(AUGSBURG)
PI Z(TUN)
FRAXE
Chronic obstructive pulmonary disease
+39 more conditions
Key Variants
RS112030253
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
Health Risk
RS113813309
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
Health Risk
RS11558258
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS11575873
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
Health Risk
RS121912712
Conflicting classifications of pathogenicity
PI CHRISTCHURCH, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
Health Risk
RS1243163
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS1281598461
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
Health Risk
RS1378794678
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS138611390
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Inborn genetic diseases, SERPINA1-related disorder
Health Risk
RS139964603
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS141095970
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
Health Risk
RS141620200
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Hepatocellular carcinoma
Health Risk
All Variants (112)
RSID Category Clinical Significance Conditions
RS112030253 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS113813309 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS11558258 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS11575873 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
RS121912712 Health Risk Conflicting classifications of pathogenicity PI CHRISTCHURCH, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS1243163 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1281598461 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS1378794678 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS138611390 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, SERPINA1-related disorder
RS139964603 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS141095970 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
RS141620200 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Hepatocellular carcinoma
RS143920236 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS146596574 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS147283849 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Inborn genetic diseases
RS148362959 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
RS150455534 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS150784949 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS1555369128 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1566753480 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS199422210 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS200936638 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS201774333 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS28929470 Health Risk Conflicting classifications of pathogenicity PI F, Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS367797069 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS367822021 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
RS368433503 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS373630097 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
RS544632177 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS550592374 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS56388024 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
RS72552401 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
RS745679666 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS746197812 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS752267053 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS753313462 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS766128806 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS773222881 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS864622046 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1057516448 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1057516555 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1057516929 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS11558264 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1275309068 Health Risk Likely pathogenic SERPINA1-related disorder, SERPINA1-related disorder
RS138070585 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1389973852 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1445192595 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1457464431 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555367891 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1555367897 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
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