MFAP5 Chromosome 12
Microfibril associated protein 5
Upload your DNA to see your personal genotypes for variants in MFAP5.
What This Gene Does
This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Associated Conditions (7)
Cardiovascular phenotype
MFAP5-related disorder
Aortic aneurysm
familial thoracic 9
Familial cancer of breast
Familial thoracic aortic aneurysm and aortic dissection
Isolated thoracic aortic aneurysm
Key Variants
RS1042828478
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1294533558
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS139330366
Conflicting classifications of pathogenicity
Cardiovascular phenotype, MFAP5-related disorder, Aortic aneurysm
Health Risk
RS148770543
Conflicting classifications of pathogenicity
Cardiovascular phenotype, MFAP5-related disorder, Cardiovascular phenotype
Health Risk
RS148879406
Conflicting classifications of pathogenicity
Cardiovascular phenotype, MFAP5-related disorder, Familial cancer of breast
Health Risk
RS192822432
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1942169361
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 9, Aortic aneurysm
Health Risk
RS2136485750
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS2540311940
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS376830567
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS724159961
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 9, Aortic aneurysm
Health Risk
RS727502791
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 9, Isolated thoracic aortic aneurysm
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1042828478 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1294533558 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS139330366 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, MFAP5-related disorder, Aortic aneurysm |
| RS148770543 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, MFAP5-related disorder, Cardiovascular phenotype |
| RS148879406 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, MFAP5-related disorder, Familial cancer of breast |
| RS192822432 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection |
| RS1942169361 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 9, Aortic aneurysm |
| RS2136485750 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2540311940 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS376830567 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection |
| RS724159961 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 9, Aortic aneurysm |
| RS727502791 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 9, Isolated thoracic aortic aneurysm |
| RS748795143 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS765205871 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS768885285 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS769973987 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS962247688 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1179559567 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2540288652 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 9, Aortic aneurysm |
| RS746355340 | Health Risk | Pathogenic | — |