FLNB Chromosome 3
Filamin B
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What This Gene Does
This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Filamin family
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000136068
Associated Conditions (26)
Inborn genetic diseases
FLNB-Related Spectrum Disorders
Connective tissue disorder
FLNB-related disorder
Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Skeletal dysplasia
Atelosteogenesis type III
Atelosteogenesis type I
Boomerang dysplasia
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Lung cancer
Colon adenocarcinoma
Sarcoma
Familial cancer of breast
Gastric cancer
Malignant tumor of esophagus
+6 more conditions
Key Variants
RS1021647942
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1032256376
Conflicting classifications of pathogenicity
Health Risk
RS1042412076
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS112942586
Conflicting classifications of pathogenicity
FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
Health Risk
RS113513946
Conflicting classifications of pathogenicity
FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
Health Risk
RS114804033
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116142791
Conflicting classifications of pathogenicity
FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
Health Risk
RS13321615
Conflicting classifications of pathogenicity
FLNB-Related Spectrum Disorders, Connective tissue disorder, FLNB-related disorder
Health Risk
RS1341441238
Conflicting classifications of pathogenicity
FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
Health Risk
RS1343990349
Conflicting classifications of pathogenicity
FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
Health Risk
RS1350216610
Conflicting classifications of pathogenicity
Health Risk
RS1356745912
Conflicting classifications of pathogenicity
Larsen syndrome, Larsen syndrome
Health Risk
All Variants (360)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS866717445 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Connective tissue disorder |
| RS886042162 | Health Risk | Conflicting classifications of pathogenicity | FLNB-related disorder, FLNB-related disorder |
| RS886058766 | Health Risk | Conflicting classifications of pathogenicity | FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders |
| RS937051879 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS9813235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064796797 | Health Risk | Likely pathogenic | — |
| RS1274950884 | Health Risk | Likely pathogenic | Larsen syndrome, Larsen syndrome |
| RS1349377950 | Health Risk | Likely pathogenic | — |
| RS1470699812 | Health Risk | Likely pathogenic | Patellar hypoplasia, Knee dislocation, Limited knee flexion/extension |
| RS1553701033 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS1553703909 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS17058845 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2097209399 | Health Risk | Likely pathogenic | Atelosteogenesis type III, Atelosteogenesis type III |
| RS2097257677 | Health Risk | Likely pathogenic | Atelosteogenesis type III, Atelosteogenesis type III |
| RS2097315324 | Health Risk | Likely pathogenic | — |
| RS2106946911 | Health Risk | Likely pathogenic | — |
| RS2106947027 | Health Risk | Likely pathogenic | Connective tissue disorder, Connective tissue disorder |
| RS2106952056 | Health Risk | Likely pathogenic | — |
| RS2106966046 | Health Risk | Likely pathogenic | — |
| RS2107130847 | Health Risk | Likely pathogenic | — |
| RS2107220190 | Health Risk | Likely pathogenic | Larsen syndrome, Larsen syndrome |
| RS2107220476 | Health Risk | Likely pathogenic | — |
| RS2107225016 | Health Risk | Likely pathogenic | — |
| RS2107225089 | Health Risk | Likely pathogenic | — |
| RS2470996522 | Health Risk | Likely pathogenic | — |
| RS2470996560 | Health Risk | Likely pathogenic | FLNB-related disorder, FLNB-related disorder |
| RS2471006494 | Health Risk | Likely pathogenic | Atelosteogenesis type I, Atelosteogenesis type I |
| RS2471006570 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2471063371 | Health Risk | Likely pathogenic | — |
| RS2471069909 | Health Risk | Likely pathogenic | — |
| RS2471081688 | Health Risk | Likely pathogenic | — |
| RS2471092923 | Health Risk | Likely pathogenic | — |
| RS2471110676 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2471110969 | Health Risk | Likely pathogenic | — |
| RS2471123825 | Health Risk | Likely pathogenic | — |
| RS2471135131 | Health Risk | Likely pathogenic | — |
| RS2471154855 | Health Risk | Likely pathogenic | — |
| RS2471161029 | Health Risk | Likely pathogenic | Larsen syndrome, Larsen syndrome |
| RS2471173321 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2471190195 | Health Risk | Likely pathogenic | FLNB-related disorder, FLNB-related disorder |
| RS2471197349 | Health Risk | Likely pathogenic | FLNB-related disorder, FLNB-related disorder |
| RS2471206868 | Health Risk | Likely pathogenic | — |
| RS2477194940 | Health Risk | Likely pathogenic | Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome |
| RS2477195648 | Health Risk | Likely pathogenic | — |
| RS28937587 | Health Risk | Likely pathogenic | Atelosteogenesis type III, Atelosteogenesis type III |
| RS372940610 | Health Risk | Likely pathogenic | Larsen syndrome, Larsen syndrome |
| RS745381057 | Health Risk | Likely pathogenic | — |
| RS772444561 | Health Risk | Likely pathogenic | — |
| RS80356504 | Health Risk | Likely pathogenic | Larsen syndrome, See cases, FLNB-related disorder |
| RS80356506 | Health Risk | Likely pathogenic | Larsen syndrome, Connective tissue disorder, Larsen syndrome |