LMNB1 Chromosome 5
Lamin B1
Upload your DNA to see your personal genotypes for variants in LMNB1.
What This Gene Does
This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Lamins
Locus Type
gene with protein product
Location
5q23.2
Ensembl
ENSG00000113368
Associated Conditions (8)
Inborn genetic diseases
Adult-onset autosomal dominant demyelinating leukodystrophy
Cervical cancer
Microcephaly 26
primary
autosomal dominant
Syndrome with microcephaly as major feature
Microcephaly
Key Variants
RS1187296225
Conflicting classifications of pathogenicity
Health Risk
RS138778484
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142016804
Conflicting classifications of pathogenicity
Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy
Health Risk
RS150504258
Conflicting classifications of pathogenicity
Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy
Health Risk
RS190794874
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368286117
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370551700
Conflicting classifications of pathogenicity
Adult-onset autosomal dominant demyelinating leukodystrophy, Cervical cancer, Adult-onset autosomal dominant demyelinating leukodystrophy
Health Risk
RS370881377
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372984423
Conflicting classifications of pathogenicity
Health Risk
RS374998378
Conflicting classifications of pathogenicity
Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy
Health Risk
RS546757986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS550205958
Conflicting classifications of pathogenicity
Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1187296225 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138778484 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142016804 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy |
| RS150504258 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy |
| RS190794874 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368286117 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370551700 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Cervical cancer, Adult-onset autosomal dominant demyelinating leukodystrophy |
| RS370881377 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372984423 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374998378 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy |
| RS546757986 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS550205958 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy |
| RS746416284 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy |
| RS757576125 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Microcephaly 26, primary |
| RS758245272 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771251880 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset autosomal dominant demyelinating leukodystrophy, Inborn genetic diseases, Adult-onset autosomal dominant demyelinating leukodystrophy |
| RS1750506249 | Health Risk | Likely pathogenic | Microcephaly 26, primary, autosomal dominant |
| RS2479520123 | Health Risk | Likely pathogenic | Microcephaly 26, primary, autosomal dominant |
| RS1245844735 | Health Risk | Pathogenic | Syndrome with microcephaly as major feature, Microcephaly 26, primary |
| RS1750497172 | Health Risk | Pathogenic | Syndrome with microcephaly as major feature, Microcephaly 26, primary |
| RS1751587092 | Health Risk | Pathogenic | Microcephaly 26, primary, autosomal dominant |
| RS1751797979 | Health Risk | Pathogenic | Microcephaly, Microcephaly |
| RS935132421 | Health Risk | Pathogenic | Microcephaly 26, primary, autosomal dominant |