LMNB2 Chromosome 19
Lamin B2
Upload your DNA to see your personal genotypes for variants in LMNB2.
What This Gene Does
This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Lamins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000176619
Associated Conditions (10)
Lipodystrophy
partial
acquired
susceptibility to
Progressive myoclonic epilepsy type 9
Microcephaly 27
primary
autosomal dominant
LMNB2-related disorder
See cases
Key Variants
RS112419003
Conflicting classifications of pathogenicity
Lipodystrophy, partial, acquired
Health Risk
RS138467082
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 9, Lipodystrophy, partial
Health Risk
RS143717863
Conflicting classifications of pathogenicity
Lipodystrophy, partial, acquired
Health Risk
RS145978406
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 9, Lipodystrophy, partial
Health Risk
RS148936043
Conflicting classifications of pathogenicity
Lipodystrophy, partial, acquired
Health Risk
RS151318750
Conflicting classifications of pathogenicity
Lipodystrophy, partial, acquired
Health Risk
RS199577453
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 9, Lipodystrophy, partial
Health Risk
RS201032266
Conflicting classifications of pathogenicity
Lipodystrophy, partial, acquired
Health Risk
RS201873197
Conflicting classifications of pathogenicity
Lipodystrophy, partial, acquired
Health Risk
RS368745985
Conflicting classifications of pathogenicity
Lipodystrophy, partial, acquired
Health Risk
RS369838129
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 9, Lipodystrophy, partial
Health Risk
RS369942106
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 9, Lipodystrophy, partial
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112419003 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS138467082 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS143717863 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS145978406 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS148936043 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS151318750 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS199577453 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS201032266 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS201873197 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS368745985 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS369838129 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS369942106 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS559532964 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS749496136 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS754149098 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS758373595 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS766297775 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS770685785 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS776205964 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS776574641 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS778299381 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS779614513 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS779868941 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS780297843 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 9, Lipodystrophy, partial |
| RS780728738 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, partial, acquired |
| RS1971791380 | Health Risk | Pathogenic | Microcephaly 27, primary, autosomal dominant |
| RS1972096108 | Health Risk | Pathogenic | Microcephaly 27, primary, autosomal dominant |
| RS797045143 | Health Risk | Pathogenic | Progressive myoclonic epilepsy type 9, Progressive myoclonic epilepsy type 9 |