FBN1 Chromosome 15
Fibrillin 1
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What This Gene Does
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
Fibrillin family
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000166147
Associated Conditions (97)
Familial thoracic aortic aneurysm and aortic dissection
Marfan syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
8 conditions
Geleophysic dysplasia
Weill-Marchesani syndrome
Stiff skin syndrome
Ectopia lentis 1
isolated
autosomal dominant
Acromicric dysplasia
Progeroid and marfanoid aspect-lipodystrophy syndrome
Isolated thoracic aortic aneurysm
Connective tissue disorder
FBN1-related disorder
7 conditions
MARFAN SYNDROME
SEVERE CLASSIC
MILD
Neonatal Marfan syndrome
+77 more conditions
Key Variants
RS1006702602
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1008093328
Conflicting classifications of pathogenicity
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
Health Risk
RS1057517910
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057520813
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057521207
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057522904
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057524697
Conflicting classifications of pathogenicity
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
Health Risk
RS1060501032
Conflicting classifications of pathogenicity
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
Health Risk
RS1060501079
Conflicting classifications of pathogenicity
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1060501083
Conflicting classifications of pathogenicity
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
Health Risk
RS1060504144
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1064793112
Conflicting classifications of pathogenicity
Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
Health Risk
All Variants (3144)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2141306536 | Health Risk | Likely pathogenic | Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm |
| RS2141308906 | Health Risk | Likely pathogenic | Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm |
| RS2141315718 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141315849 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141317422 | Health Risk | Likely pathogenic | Perrault syndrome 1, Perrault syndrome 1 |
| RS2141317465 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141323212 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141323336 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141323348 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2141327634 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2141327690 | Health Risk | Likely pathogenic | Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm |
| RS2141330884 | Health Risk | Likely pathogenic | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS2141331190 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141335915 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141335918 | Health Risk | Likely pathogenic | Isolated thoracic aortic aneurysm, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141336245 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2141343233 | Health Risk | Likely pathogenic | Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm |
| RS2141343367 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505370199 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505375328 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505375669 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505383004 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505394853 | Health Risk | Likely pathogenic | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS2505395364 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505398008 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505398111 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505399457 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505399894 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505406414 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505406895 | Health Risk | Likely pathogenic | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS2505408108 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505408183 | Health Risk | Likely pathogenic | — |
| RS2505412414 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505415054 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505419880 | Health Risk | Likely pathogenic | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections |
| RS2505419982 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505419990 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505420312 | Health Risk | Likely pathogenic | — |
| RS2505425081 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505429471 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505429599 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505429718 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505435709 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505436797 | Health Risk | Likely pathogenic | Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome |
| RS2505436934 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505437074 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505438414 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505438669 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2505451845 | Health Risk | Likely pathogenic | Marfan syndrome, Marfan syndrome |
| RS2505452160 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection |