SERPINF1 Chromosome 17
Serpin family F member 1
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What This Gene Does
This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000132386
Associated Conditions (7)
Osteogenesis imperfecta type 6
Osteogenesis imperfecta
Osteoporosis
SERPINF1-related disorder
Osteogenesis imperfecta type III
Inborn genetic diseases
Abnormality of the skeletal system
Key Variants
RS137997656
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
Health Risk
RS139841572
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta, Osteogenesis imperfecta type 6
Health Risk
RS140512665
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta, Osteoporosis
Health Risk
RS143827025
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta, SERPINF1-related disorder
Health Risk
RS148005190
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
Health Risk
RS148717983
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
Health Risk
RS150314171
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS1555571967
Conflicting classifications of pathogenicity
Health Risk
RS1597352466
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
Health Risk
RS199908714
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
Health Risk
RS199977856
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, SERPINF1-related disorder, Osteogenesis imperfecta type 6
Health Risk
RS200114659
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1908050941 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS193302871 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS193302872 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS193302873 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS2151212834 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS2151212936 | Health Risk | Pathogenic | — |
| RS2151213387 | Health Risk | Pathogenic | — |
| RS2543476674 | Health Risk | Pathogenic | — |
| RS2543477078 | Health Risk | Pathogenic | — |
| RS2543482640 | Health Risk | Pathogenic | — |
| RS2543482778 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS2543483120 | Health Risk | Pathogenic | — |
| RS2543492881 | Health Risk | Pathogenic | — |
| RS2543494650 | Health Risk | Pathogenic | — |
| RS369314029 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type 6, Osteogenesis imperfecta |
| RS369973630 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS374677194 | Health Risk | Pathogenic | — |
| RS398122518 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS398122519 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS398122520 | Health Risk | Pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS758551389 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS762554291 | Health Risk | Pathogenic | — |
| RS1272920425 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS763291398 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |
| RS869312908 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6 |