EPB41 Chromosome 1
Erythrocyte membrane protein band 4.1
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What This Gene Does
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Erythrocyte membrane protein band 4.1|FERM domain containing"
Locus Type
gene with protein product
Location
1p35.3
Ensembl
ENSG00000159023
Associated Conditions (5)
Elliptocytosis 1
Inborn genetic diseases
EPB41-related disorder
Lymphoma
Hereditary elliptocytosis
Key Variants
RS137895267
Conflicting classifications of pathogenicity
Elliptocytosis 1, Inborn genetic diseases, Elliptocytosis 1
Health Risk
RS138888144
Conflicting classifications of pathogenicity
Elliptocytosis 1, Inborn genetic diseases, EPB41-related disorder
Health Risk
RS141680585
Conflicting classifications of pathogenicity
Elliptocytosis 1, Elliptocytosis 1
Health Risk
RS142705709
Conflicting classifications of pathogenicity
Health Risk
RS144499540
Conflicting classifications of pathogenicity
Elliptocytosis 1, Elliptocytosis 1
Health Risk
RS146976856
Conflicting classifications of pathogenicity
Elliptocytosis 1, Elliptocytosis 1
Health Risk
RS1477424620
Conflicting classifications of pathogenicity
Elliptocytosis 1, Elliptocytosis 1
Health Risk
RS189183599
Conflicting classifications of pathogenicity
Health Risk
RS201674226
Conflicting classifications of pathogenicity
Elliptocytosis 1, Lymphoma, Elliptocytosis 1
Health Risk
RS374316682
Conflicting classifications of pathogenicity
Elliptocytosis 1, Elliptocytosis 1
Health Risk
RS1160118901
Likely pathogenic
Elliptocytosis 1, Elliptocytosis 1
Health Risk
RS2150273700
Likely pathogenic
Elliptocytosis 1, Elliptocytosis 1
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137895267 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Inborn genetic diseases, Elliptocytosis 1 |
| RS138888144 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Inborn genetic diseases, EPB41-related disorder |
| RS141680585 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Elliptocytosis 1 |
| RS142705709 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144499540 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Elliptocytosis 1 |
| RS146976856 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Elliptocytosis 1 |
| RS1477424620 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Elliptocytosis 1 |
| RS189183599 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201674226 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Lymphoma, Elliptocytosis 1 |
| RS374316682 | Health Risk | Conflicting classifications of pathogenicity | Elliptocytosis 1, Elliptocytosis 1 |
| RS1160118901 | Health Risk | Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS2150273700 | Health Risk | Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS2150754040 | Health Risk | Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS2151005632 | Health Risk | Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS2547564126 | Health Risk | Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS2548140072 | Health Risk | Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS2548242861 | Health Risk | Likely pathogenic | — |
| RS2548658834 | Health Risk | Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS537037014 | Health Risk | Likely pathogenic | EPB41-related disorder, EPB41-related disorder |
| RS121434564 | Health Risk | Pathogenic | Elliptocytosis 1, Elliptocytosis 1, Elliptocytosis 1 |
| RS1557948590 | Health Risk | Pathogenic | — |
| RS2548240487 | Health Risk | Pathogenic | — |
| RS2548660142 | Health Risk | Pathogenic | Elliptocytosis 1, Elliptocytosis 1 |
| RS869025285 | Health Risk | Pathogenic | Hereditary elliptocytosis, Hereditary elliptocytosis |
| RS1557948192 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2548180428 | Health Risk | Pathogenic/Likely pathogenic | EPB41-related disorder, Elliptocytosis 1, EPB41-related disorder |
| RS2548448730 | Health Risk | Pathogenic/Likely pathogenic | Elliptocytosis 1, Elliptocytosis 1 |