LBR Chromosome 1
Lamin B receptor
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What This Gene Does
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Tudor domain containing
Locus Type
gene with protein product
Location
1q42.12
Ensembl
ENSG00000143815
Associated Conditions (19)
Pelger-Huët anomaly
6 conditions
RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
Greenberg dysplasia
Sarcoma
Malignant tumor of esophagus
Lung cancer
Cervical cancer
LBR-related disorder
Inborn genetic diseases
Connective tissue disorder
Reynolds syndrome
Regressive spondylometaphyseal dysplasia
RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY
Malignant tumor of urinary bladder
Jeune thoracic dystrophy
Anadysplasia-like
spontaneously remitting spondylometaphyseal dysplasia
Acute myeloid leukemia
Key Variants
RS1057516045
Conflicting classifications of pathogenicity
Pelger-Huët anomaly, 6 conditions, Pelger-Huët anomaly
Health Risk
RS1131691304
Conflicting classifications of pathogenicity
RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY, RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
Health Risk
RS1216210580
Conflicting classifications of pathogenicity
Greenberg dysplasia, Sarcoma, Malignant tumor of esophagus
Health Risk
RS137852605
Conflicting classifications of pathogenicity
Pelger-Huët anomaly, Pelger-Huët anomaly
Health Risk
RS138731836
Conflicting classifications of pathogenicity
Health Risk
RS138769892
Conflicting classifications of pathogenicity
Greenberg dysplasia, LBR-related disorder, Greenberg dysplasia
Health Risk
RS140355742
Conflicting classifications of pathogenicity
Greenberg dysplasia, Greenberg dysplasia
Health Risk
RS142747191
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144672633
Conflicting classifications of pathogenicity
Health Risk
RS146953852
Conflicting classifications of pathogenicity
Greenberg dysplasia, Connective tissue disorder, Greenberg dysplasia
Health Risk
RS148541545
Conflicting classifications of pathogenicity
Greenberg dysplasia, LBR-related disorder, Greenberg dysplasia
Health Risk
RS150177807
Conflicting classifications of pathogenicity
Greenberg dysplasia, Greenberg dysplasia
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387906416 | Health Risk | Pathogenic | Greenberg dysplasia, Pelger-Huët anomaly, Greenberg dysplasia |
| RS587777172 | Health Risk | Pathogenic | Greenberg dysplasia, RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY, Greenberg dysplasia |
| RS863223326 | Health Risk | Pathogenic | Pelger-Huët anomaly, Greenberg dysplasia, Pelger-Huët anomaly |
| RS869312905 | Health Risk | Pathogenic | Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia, Greenberg dysplasia |
| RS886037616 | Health Risk | Pathogenic | Pelger-Huët anomaly, RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY, Pelger-Huët anomaly |
| RS886037617 | Health Risk | Pathogenic | Pelger-Huët anomaly, Pelger-Huët anomaly |
| RS886037618 | Health Risk | Pathogenic | Pelger-Huët anomaly, Pelger-Huët anomaly |
| RS886037655 | Health Risk | Pathogenic | Greenberg dysplasia, Greenberg dysplasia |
| RS368708382 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS573510559 | Health Risk | Pathogenic/Likely pathogenic | Regressive spondylometaphyseal dysplasia, Pelger-Huët anomaly, Greenberg dysplasia |
| RS587777171 | Health Risk | Pathogenic/Likely pathogenic | Greenberg dysplasia, Pelger-Huët anomaly, Greenberg dysplasia |
| RS754049402 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Regressive spondylometaphyseal dysplasia, LBR-related disorder |