FERMT3 Chromosome 11
FERM domain containing kindlin 3
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What This Gene Does
Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"Fermitins|Pleckstrin homology domain containing|FERM domain containing"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000149781
Associated Conditions (4)
Leukocyte adhesion deficiency 3
Inborn genetic diseases
FERMT3-related disorder
Leukocyte adhesion deficiency
Key Variants
RS113348354
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder
Health Risk
RS138031026
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder
Health Risk
RS138704967
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder
Health Risk
RS140328152
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Inborn genetic diseases, Leukocyte adhesion deficiency 3
Health Risk
RS142025489
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
Health Risk
RS142774418
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
Health Risk
RS143873934
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Inborn genetic diseases, Leukocyte adhesion deficiency 3
Health Risk
RS148021416
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, FERMT3-related disorder, Leukocyte adhesion deficiency 3
Health Risk
RS150869428
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder
Health Risk
RS199749996
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Inborn genetic diseases, Leukocyte adhesion deficiency 3
Health Risk
RS749769689
Conflicting classifications of pathogenicity
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
Health Risk
RS1946445537
Likely pathogenic
Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113348354 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder |
| RS138031026 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder |
| RS138704967 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder |
| RS140328152 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Inborn genetic diseases, Leukocyte adhesion deficiency 3 |
| RS142025489 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS142774418 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS143873934 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Inborn genetic diseases, Leukocyte adhesion deficiency 3 |
| RS148021416 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, FERMT3-related disorder, Leukocyte adhesion deficiency 3 |
| RS150869428 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Inborn genetic diseases, FERMT3-related disorder |
| RS199749996 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Inborn genetic diseases, Leukocyte adhesion deficiency 3 |
| RS749769689 | Health Risk | Conflicting classifications of pathogenicity | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1946445537 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2495977429 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2496049730 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS760261349 | Health Risk | Likely pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS121918295 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS121918296 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency, Leukocyte adhesion deficiency 3 |
| RS121918298 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1286499329 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1591028090 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1591037806 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS1591038507 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2134845306 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2134880586 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2134903776 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2496016889 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS2496031806 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS775138431 | Health Risk | Pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |
| RS121918297 | Health Risk | Pathogenic/Likely pathogenic | Leukocyte adhesion deficiency 3, Leukocyte adhesion deficiency 3 |