FBN3 Chromosome 19
Fibrillin 3
Upload your DNA to see your personal genotypes for variants in FBN3.
What This Gene Does
This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Fibrillin family
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000142449
Associated Conditions (1)
FBN3-related disorder
Key Variants
RS116520950
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
RS138457751
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
RS141490945
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
RS141592778
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
RS142237067
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
RS142789080
Conflicting classifications of pathogenicity
Health Risk
RS143150244
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
RS144078033
Conflicting classifications of pathogenicity
Health Risk
RS144238038
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
RS144400071
Conflicting classifications of pathogenicity
Health Risk
RS144577347
Conflicting classifications of pathogenicity
Health Risk
RS144943251
Conflicting classifications of pathogenicity
FBN3-related disorder, FBN3-related disorder
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116520950 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS138457751 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS141490945 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS141592778 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS142237067 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS142789080 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143150244 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS144078033 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144238038 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS144400071 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144577347 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144943251 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS145090095 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS145562828 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146977165 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS147206351 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS147836577 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149073155 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149882309 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS150945472 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199554298 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199628711 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200778633 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201138085 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201220144 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS201628585 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202195362 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2512637222 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34941422 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS35442268 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS368557271 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371816658 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372200406 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376575940 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS558440722 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS73923958 | Health Risk | Conflicting classifications of pathogenicity | FBN3-related disorder, FBN3-related disorder |
| RS753599265 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754675590 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767001525 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769009575 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773721983 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774484397 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775168991 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775303474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775495075 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775664860 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776367717 | Health Risk | Conflicting classifications of pathogenicity | — |