LMNB1 (lamin B1) - Rat Genome Database

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Gene: LMNB1 (lamin B1) Homo sapiens
Analyze
Symbol: LMNB1
Name: lamin B1
RGD ID: 733220
HGNC Page HGNC:6637
Description: Predicted to be a structural constituent of cytoskeleton. Involved in nuclear envelope organization. Located in nuclear lamina and nuclear membrane. Implicated in adult-onset autosomal dominant demyelinating leukodystrophy and primary autosomal recessive microcephaly.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADLD; lamin-B1; LMN; LMN2; LMNB; MCPH26; MGC111419
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385126,776,623 - 126,837,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5126,776,623 - 126,837,020 (+)EnsemblGRCh38hg38GRCh38
GRCh375126,112,315 - 126,172,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365126,140,732 - 126,200,608 (+)NCBINCBI36Build 36hg18NCBI36
Build 345126,140,731 - 126,200,608NCBI
Celera5122,068,688 - 122,128,577 (+)NCBICelera
Cytogenetic Map5q23.2NCBI
HuRef5121,304,338 - 121,364,498 (+)NCBIHuRef
CHM1_15125,544,889 - 125,605,473 (+)NCBICHM1_1
T2T-CHM13v2.05127,296,579 - 127,357,028 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
Azaspiracid  (EXP)
azathioprine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-ionone  (EXP)
bicalutamide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP,ISO)
carteolol  (EXP)
cefaloridine  (ISO)
cisplatin  (EXP)
cladribine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
diallyl trisulfide  (EXP)
diclofenac  (ISO)
dieldrin  (ISO)
diethyl maleate  (ISO)
dimethylselenide  (EXP)
dioxygen  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
fluoranthene  (ISO)
folic acid  (EXP)
FR900359  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glyphosate  (EXP,ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
levofloxacin  (ISO)
lipopolysaccharide  (EXP)
lovastatin  (EXP)
menadione  (EXP)
mercury dichloride  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
mirex  (ISO)
mitoxantrone  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
quercetin  (EXP)
quinomethionate  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zearalenone  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
intermediate filament  (IEA)
lamin filament  (IEA)
membrane  (HDA)
nuclear envelope  (IDA,IEA,ISO,TAS)
nuclear inner membrane  (IEA)
nuclear lamina  (IBA,IEA,IMP,ISO)
nuclear matrix  (IEA,ISO)
nuclear membrane  (HDA,IDA,ISO)
nuclear periphery  (IEA)
nucleoplasm  (IEA,TAS)
nucleus  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal auditory evoked potentials  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cerebellar peduncle morphology  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of somatosensory evoked potentials  (IAGP)
Absent speech  (IAGP)
Action tremor  (IAGP)
Adult onset  (IAGP)
Alternating esotropia  (IAGP)
Anhidrosis  (IAGP)
Antenatal onset  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aspiration pneumonia  (IAGP)
Ataxia  (IAGP)
Atrophy of the spinal cord  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Atrophy/Degeneration affecting the cerebrum  (IAGP)
Atypical behavior  (IAGP)
Autonomic bladder dysfunction  (IAGP)
Autonomic erectile dysfunction  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Babinski sign  (IAGP)
Bowel incontinence  (IAGP)
Cerebral visual impairment  (IAGP)
Chronic constipation  (IAGP)
Clonus  (IAGP)
Cognitive impairment  (IAGP)
Constipation  (IAGP)
Corpus callosum atrophy  (IAGP)
Decreased sweating due to autonomic dysfunction  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Diffuse leukoencephalopathy  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dysplastic corpus callosum  (IAGP)
EEG with generalized slow activity  (IAGP)
Erectile dysfunction  (IAGP)
Extra-axial cerebrospinal fluid accumulation  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Functional motor deficit  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Gingival overgrowth  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Head titubation  (IAGP)
Horizontal nystagmus  (IAGP)
Hydronephrosis  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothermia  (IAGP)
Impaired distal vibration sensation  (IAGP)
Impaired proprioception  (IAGP)
Impotence  (IAGP)
Increased CSF protein concentration  (IAGP)
Infantile onset  (IAGP)
Intention tremor  (IAGP)
Leukodystrophy  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Malnutrition  (IAGP)
Microcephaly  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Narrow forehead  (IAGP)
Nystagmus  (IAGP)
Orthostatic hypotension  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Pachygyria  (IAGP)
Patent foramen ovale  (IAGP)
Personality changes  (IAGP)
Pointed chin  (IAGP)
Progressive  (IAGP)
Progressive neurologic deterioration  (IAGP)
Prominent eyelashes  (IAGP)
Prominent nasal bridge  (IAGP)
Protruding ear  (IAGP)
Protruding tongue  (IAGP)
Pseudobulbar paralysis  (IAGP)
Pseudobulbar signs  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Simplified gyral pattern  (IAGP)
Spastic gait  (IAGP)
Spastic tetraparesis  (IAGP)
Spasticity  (IAGP)
Stereotypical hand wringing  (IAGP)
Symmetric peripheral demyelination  (IAGP)
Temperature instability  (IAGP)
Tetraparesis  (IAGP)
Tooth agenesis  (IAGP)
Tremor  (IAGP)
Trigonocephaly  (IAGP)
Upper limb postural tremor  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary retention  (IAGP)
Urinary urgency  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Lamin B1 duplications cause autosomal dominant leukodystrophy. Padiath QS, etal., Nat Genet. 2006 Oct;38(10):1114-23. Epub 2006 Sep 3.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1986862   PMID:2023931   PMID:2325650   PMID:7557986   PMID:7628545   PMID:8034666   PMID:8324822   PMID:8838815   PMID:8978814   PMID:9128241   PMID:9243284   PMID:9305626  
PMID:9367621   PMID:9436978   PMID:9490046   PMID:10679189   PMID:10791971   PMID:10806082   PMID:10960149   PMID:11331782   PMID:11441066   PMID:11691994   PMID:11790298   PMID:11792809  
PMID:11901153   PMID:12135703   PMID:12477932   PMID:12490158   PMID:12670476   PMID:12898336   PMID:14504265   PMID:15161933   PMID:15265697   PMID:15284226   PMID:15635413   PMID:16083285  
PMID:16196087   PMID:16216881   PMID:16236267   PMID:16283426   PMID:16344560   PMID:16365157   PMID:16410549   PMID:16543417   PMID:16791210   PMID:17550303   PMID:17620012   PMID:18305033  
PMID:18334554   PMID:18524819   PMID:19001169   PMID:19141474   PMID:19151023   PMID:19198602   PMID:19322201   PMID:19348623   PMID:19383719   PMID:19454010   PMID:19522540   PMID:19727227  
PMID:19738201   PMID:19765186   PMID:19913121   PMID:19946888   PMID:19961535   PMID:19961560   PMID:20004208   PMID:20085707   PMID:20230530   PMID:20360068   PMID:20628086   PMID:20816241  
PMID:20850016   PMID:21139048   PMID:21225301   PMID:21346760   PMID:21516116   PMID:21549307   PMID:21610090   PMID:21654808   PMID:21873635   PMID:21890473   PMID:21897860   PMID:21906983  
PMID:21909802   PMID:21963094   PMID:21988832   PMID:22053931   PMID:22155925   PMID:22178446   PMID:22246186   PMID:22265972   PMID:22268729   PMID:22412018   PMID:22446626   PMID:22496421  
PMID:22505724   PMID:22623428   PMID:22658654   PMID:22751105   PMID:22863883   PMID:22939629   PMID:23000965   PMID:23178491   PMID:23254330   PMID:23261988   PMID:23439683   PMID:23475125  
PMID:23580612   PMID:23649844   PMID:23681646   PMID:23733478   PMID:23798571   PMID:23857605   PMID:23873483   PMID:23874603   PMID:23934658   PMID:23964094   PMID:24163370   PMID:24244333  
PMID:24293108   PMID:24297448   PMID:24457600   PMID:24501781   PMID:24623722   PMID:24711643   PMID:24732130   PMID:24816145   PMID:24858279   PMID:24981860   PMID:25015289   PMID:25158218  
PMID:25477337   PMID:25535332   PMID:25637521   PMID:25659154   PMID:25701871   PMID:25733566   PMID:25796446   PMID:25807068   PMID:25852190   PMID:25921289   PMID:25948554   PMID:25963833  
PMID:26053668   PMID:26167880   PMID:26209609   PMID:26264872   PMID:26311780   PMID:26344197   PMID:26496610   PMID:26524528   PMID:26618866   PMID:26749591   PMID:26760575   PMID:26831064  
PMID:26876308   PMID:26912724   PMID:27375898   PMID:27503760   PMID:27512140   PMID:27609421   PMID:27684187   PMID:27697922   PMID:27705803   PMID:27760841   PMID:27926867   PMID:27976729  
PMID:28192407   PMID:28229933   PMID:28302793   PMID:28416769   PMID:28514442   PMID:28533407   PMID:28581483   PMID:28613254   PMID:28685749   PMID:28718761   PMID:28769756   PMID:28844980  
PMID:28977666   PMID:29115590   PMID:29128334   PMID:29142250   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29395067   PMID:29417283   PMID:29467282   PMID:29478914   PMID:29507755  
PMID:29509190   PMID:29511261   PMID:29564676   PMID:29568061   PMID:29676528   PMID:29753763   PMID:29844126   PMID:29969578   PMID:29997244   PMID:30021884   PMID:30194290   PMID:30196744  
PMID:30274258   PMID:30349055   PMID:30352685   PMID:30419336   PMID:30463901   PMID:30559450   PMID:30575818   PMID:30692212   PMID:30697589   PMID:30711629   PMID:30762072   PMID:30804502  
PMID:30948266   PMID:31015297   PMID:31016526   PMID:31046837   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31280863   PMID:31300519   PMID:31306099   PMID:31353912  
PMID:31409639   PMID:31467278   PMID:31501420   PMID:31532069   PMID:31586073   PMID:31620119   PMID:31685992   PMID:31871319   PMID:31995728   PMID:32051585   PMID:32129710   PMID:32269044  
PMID:32296183   PMID:32344865   PMID:32347575   PMID:32349647   PMID:32552912   PMID:32665550   PMID:32687490   PMID:32780723   PMID:32787434   PMID:32807901   PMID:32814053   PMID:32814769  
PMID:32838362   PMID:32877691   PMID:32910914   PMID:32987785   PMID:33022573   PMID:33033404   PMID:33112662   PMID:33155082   PMID:33239621   PMID:33277362   PMID:33301849   PMID:33468570  
PMID:33536335   PMID:33644029   PMID:33706103   PMID:33731348   PMID:33838681   PMID:33893211   PMID:33956061   PMID:33957083   PMID:33961781   PMID:33964137   PMID:34079125   PMID:34091597  
PMID:34108663   PMID:34403147   PMID:34452908   PMID:34469544   PMID:34537242   PMID:34551306   PMID:34597346   PMID:34650049   PMID:34709727   PMID:34732716   PMID:35013218   PMID:35013556  
PMID:35247231   PMID:35256949   PMID:35269619   PMID:35271311   PMID:35278369   PMID:35411049   PMID:35509820   PMID:35563538   PMID:35652658   PMID:35803934   PMID:35819319   PMID:35831314  
PMID:35833506   PMID:35844135   PMID:35883595   PMID:35944360   PMID:36030824   PMID:36042349   PMID:36055981   PMID:36057605   PMID:36114006   PMID:36168627   PMID:36180527   PMID:36215168  
PMID:36217030   PMID:36244648   PMID:36373674   PMID:36376293   PMID:36424410   PMID:36490346   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36598800   PMID:36604567   PMID:36629882  
PMID:36779763   PMID:36912080   PMID:37003558   PMID:37071033   PMID:37229920   PMID:37616343   PMID:37689310   PMID:37774976   PMID:37827155   PMID:37931956   PMID:38113892   PMID:38172120  
PMID:38224097   PMID:38265511   PMID:38280479  


Genomics

Comparative Map Data
LMNB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385126,776,623 - 126,837,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5126,776,623 - 126,837,020 (+)EnsemblGRCh38hg38GRCh38
GRCh375126,112,315 - 126,172,712 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365126,140,732 - 126,200,608 (+)NCBINCBI36Build 36hg18NCBI36
Build 345126,140,731 - 126,200,608NCBI
Celera5122,068,688 - 122,128,577 (+)NCBICelera
Cytogenetic Map5q23.2NCBI
HuRef5121,304,338 - 121,364,498 (+)NCBIHuRef
CHM1_15125,544,889 - 125,605,473 (+)NCBICHM1_1
T2T-CHM13v2.05127,296,579 - 127,357,028 (+)NCBIT2T-CHM13v2.0
Lmnb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391856,840,885 - 56,886,496 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1856,840,885 - 56,886,496 (+)EnsemblGRCm39 Ensembl
GRCm381856,707,813 - 56,753,424 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1856,707,813 - 56,753,424 (+)EnsemblGRCm38mm10GRCm38
MGSCv371856,867,467 - 56,913,078 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361856,833,242 - 56,878,791 (+)NCBIMGSCv36mm8
Celera1858,016,751 - 58,063,869 (+)NCBICelera
Cytogenetic Map18D3NCBI
cM Map1830.84NCBI
Lmnb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81852,373,939 - 52,413,284 (+)NCBIGRCr8
mRatBN7.21850,175,861 - 50,215,210 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1850,175,874 - 50,214,502 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1852,214,944 - 52,253,551 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01852,922,869 - 52,961,415 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01850,720,824 - 50,759,431 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01851,785,111 - 51,822,264 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1851,785,111 - 51,822,264 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01850,979,862 - 51,018,232 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41852,470,605 - 52,508,022 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11852,516,112 - 52,553,517 (+)NCBI
Celera1848,320,757 - 48,358,598 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Lmnb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555214,583,671 - 4,612,271 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555214,583,691 - 4,612,271 (+)NCBIChiLan1.0ChiLan1.0
LMNB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24122,088,569 - 122,150,100 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15120,228,131 - 120,289,089 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05122,179,513 - 122,240,848 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15127,949,457 - 128,010,721 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5127,949,457 - 128,010,721 (+)Ensemblpanpan1.1panPan2
LMNB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11115,996,627 - 16,052,719 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1115,930,436 - 16,052,127 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1114,788,442 - 14,844,580 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01116,721,688 - 16,778,072 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1116,721,265 - 16,778,626 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11115,451,725 - 15,508,065 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01115,298,132 - 15,354,432 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01115,895,575 - 15,951,943 (+)NCBIUU_Cfam_GSD_1.0
Lmnb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213138,583,486 - 138,637,939 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936504157,453 - 211,967 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936504157,459 - 211,916 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LMNB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2129,807,318 - 129,872,270 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12129,807,228 - 129,862,211 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22135,104,017 - 135,158,937 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LMNB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12329,759,133 - 29,814,332 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2329,759,514 - 29,814,314 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603448,254,893 - 48,313,748 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lmnb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477414,805,465 - 14,863,241 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477414,806,585 - 14,863,543 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LMNB1
176 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
LMNB1, EX6-8 DEL deletion Microcephaly 26, primary, autosomal dominant [RCV001292577] Chr5:5q23.2 pathogenic
NC_000005.9:g.(?_126102443)_(126199753_?)dup duplication Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000015563] Chr5:126102443..126199753 [GRCh37]
Chr5:5q23.2
pathogenic
GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1 copy number loss See cases [RCV000052108] Chr5:120739630..126823984 [GRCh38]
Chr5:120075325..126159676 [GRCh37]
Chr5:120103224..126187575 [NCBI36]
Chr5:5q23.1-23.2
pathogenic
GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 copy number loss See cases [RCV000052109] Chr5:126438406..132873967 [GRCh38]
Chr5:125774098..132209659 [GRCh37]
Chr5:125801997..132237558 [NCBI36]
Chr5:5q23.2-31.1
pathogenic
GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1 copy number loss See cases [RCV000052110] Chr5:126458947..128537986 [GRCh38]
Chr5:125794639..127873679 [GRCh37]
Chr5:125822538..127901578 [NCBI36]
Chr5:5q23.2-23.3
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 copy number loss See cases [RCV000053525] Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1
pathogenic
NM_005573.4(LMNB1):c.*18C>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000298597]|not provided [RCV000057046] Chr5:126836282 [GRCh38]
Chr5:126171974 [GRCh37]
Chr5:5q23.2
benign|not provided
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000299258]|not provided [RCV000057047]|not specified [RCV001795046] Chr5:126825998 [GRCh38]
Chr5:126161690 [GRCh37]
Chr5:5q23.2
benign|likely benign|not provided
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000386109]|not provided [RCV000057048] Chr5:126804830 [GRCh38]
Chr5:126140522 [GRCh37]
Chr5:5q23.2
benign|not provided
NM_005573.4(LMNB1):c.852T>C (p.Ser284=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000345073]|not provided [RCV000057049] Chr5:126811811 [GRCh38]
Chr5:126147503 [GRCh37]
Chr5:5q23.2
benign|likely benign|not provided
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000294151]|not provided [RCV001512219]|not specified [RCV000117493] Chr5:126804848 [GRCh38]
Chr5:126140540 [GRCh37]
Chr5:5q23.2
benign|likely benign
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 copy number loss See cases [RCV000135549] Chr5:111463016..127193038 [GRCh38]
Chr5:110798714..126528730 [GRCh37]
Chr5:110826613..126556629 [NCBI36]
Chr5:5q22.1-23.2
pathogenic
GRCh38/hg38 5q23.2(chr5:126786744-126801470)x3 copy number gain See cases [RCV000136009] Chr5:126786744..126801470 [GRCh38]
Chr5:126122436..126137162 [GRCh37]
Chr5:126150335..126165061 [NCBI36]
Chr5:5q23.2
uncertain significance
GRCh38/hg38 5q23.2(chr5:126657759-126923623)x3 copy number gain See cases [RCV000136926] Chr5:126657759..126923623 [GRCh38]
Chr5:125993451..126259315 [GRCh37]
Chr5:126021350..126287214 [NCBI36]
Chr5:5q23.2
pathogenic|uncertain significance
GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1 copy number loss See cases [RCV000136633] Chr5:122479268..126833168 [GRCh38]
Chr5:121814963..126168860 [GRCh37]
Chr5:121842862..126196759 [NCBI36]
Chr5:5q23.2
uncertain significance
GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3 copy number gain See cases [RCV000137993] Chr5:125372857..126839014 [GRCh38]
Chr5:124708550..126174706 [GRCh37]
Chr5:124736449..126202605 [NCBI36]
Chr5:5q23.2
likely benign|uncertain significance
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3
pathogenic|uncertain significance
GRCh38/hg38 5q23.2(chr5:126786744-126797308)x1 copy number loss See cases [RCV000139264] Chr5:126786744..126797308 [GRCh38]
Chr5:126122436..126133000 [GRCh37]
Chr5:126150335..126160899 [NCBI36]
Chr5:5q23.2
likely benign
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3
pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1
pathogenic
NM_005573.3(LMNB1):c.-491T>C single nucleotide variant Leukodystrophy, Adult-Onset [RCV000264862] Chr5:126777018 [GRCh38]
Chr5:126112710 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.*15T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000259722] Chr5:126836279 [GRCh38]
Chr5:126171971 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.-314C>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000263750] Chr5:126777195 [GRCh38]
Chr5:126112887 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.3(LMNB1):c.-708G>C single nucleotide variant Leukodystrophy, Adult-Onset [RCV000280096] Chr5:126776801 [GRCh38]
Chr5:126112493 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*629G>A single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000271365] Chr5:126836893 [GRCh38]
Chr5:126172585 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*239C>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000277393] Chr5:126836503 [GRCh38]
Chr5:126172195 [GRCh37]
Chr5:5q23.2
benign
NM_005573.3(LMNB1):c.-621T>C single nucleotide variant Leukodystrophy, Adult-Onset [RCV000397765] Chr5:126776888 [GRCh38]
Chr5:126112580 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.279C>T (p.Leu93=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000333700]|not provided [RCV000970700] Chr5:126777787 [GRCh38]
Chr5:126113479 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.-298G>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000316347] Chr5:126777211 [GRCh38]
Chr5:126112903 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000356354]|not provided [RCV001520837] Chr5:126826056 [GRCh38]
Chr5:126161748 [GRCh37]
Chr5:5q23.2
benign
NM_005573.3(LMNB1):c.-577C>T single nucleotide variant Leukodystrophy, Adult-Onset [RCV000401968] Chr5:126776932 [GRCh38]
Chr5:126112624 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000791125]|not provided [RCV001795969] Chr5:126810213 [GRCh38]
Chr5:126145905 [GRCh37]
Chr5:5q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_005573.3(LMNB1):c.-552G>A single nucleotide variant Leukodystrophy, Adult-Onset [RCV000304925] Chr5:126776957 [GRCh38]
Chr5:126112649 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*691A>G single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000382569] Chr5:126836955 [GRCh38]
Chr5:126172647 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000305501] Chr5:126820939 [GRCh38]
Chr5:126156631 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_005573.4(LMNB1):c.672A>G (p.Glu224=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000384885] Chr5:126810209 [GRCh38]
Chr5:126145901 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_005573.3(LMNB1):c.-583G>C single nucleotide variant Leukodystrophy, Adult-Onset [RCV000363219]|not provided [RCV003422335] Chr5:126776926 [GRCh38]
Chr5:126112618 [GRCh37]
Chr5:5q23.2
benign|uncertain significance
NM_005573.4(LMNB1):c.*518T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000386736] Chr5:126836782 [GRCh38]
Chr5:126172474 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.3(LMNB1):c.-595G>A single nucleotide variant Leukodystrophy, Adult-Onset [RCV000308589] Chr5:126776914 [GRCh38]
Chr5:126112606 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.642+10T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000346610]|not provided [RCV000963162] Chr5:126805706 [GRCh38]
Chr5:126141398 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.141C>T (p.Ile47=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000295130]|not provided [RCV002058505] Chr5:126777649 [GRCh38]
Chr5:126113341 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.*629G>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000328799] Chr5:126836893 [GRCh38]
Chr5:126172585 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*43T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000369546]|not provided [RCV001683395] Chr5:126836307 [GRCh38]
Chr5:126171999 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.*503A>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000329948] Chr5:126836767 [GRCh38]
Chr5:126172459 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.3(LMNB1):c.-635T>C single nucleotide variant Leukodystrophy, Adult-Onset [RCV000350508] Chr5:126776874 [GRCh38]
Chr5:126112566 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1492-11G>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000395587]|not provided [RCV002058507] Chr5:126825977 [GRCh38]
Chr5:126161669 [GRCh37]
Chr5:5q23.2
benign|likely benign
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_005573.3(LMNB1):c.-540G>A single nucleotide variant Leukodystrophy, Adult-Onset [RCV000361970] Chr5:126776969 [GRCh38]
Chr5:126112661 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.3(LMNB1):c.-688G>A single nucleotide variant Leukodystrophy, Adult-Onset [RCV000295564] Chr5:126776821 [GRCh38]
Chr5:126112513 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.3(LMNB1):c.-705G>T single nucleotide variant Leukodystrophy, Adult-Onset [RCV000335252] Chr5:126776804 [GRCh38]
Chr5:126112496 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.3(LMNB1):c.-894C>T single nucleotide variant Leukodystrophy, Adult-Onset [RCV000367531] Chr5:126776615 [GRCh38]
Chr5:126112307 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.3(LMNB1):c.-437C>G single nucleotide variant Leukodystrophy, Adult-Onset [RCV000322264] Chr5:126777072 [GRCh38]
Chr5:126112764 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1387-3T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000339403] Chr5:126822778 [GRCh38]
Chr5:126158470 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.-159C>G single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000373329] Chr5:126777350 [GRCh38]
Chr5:126113042 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.3(LMNB1):c.-382C>G single nucleotide variant Leukodystrophy, Adult-Onset [RCV000356167] Chr5:126777127 [GRCh38]
Chr5:126112819 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV000395495]|not provided [RCV002058506] Chr5:126819005 [GRCh38]
Chr5:126154697 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.3(LMNB1):c.-701C>T single nucleotide variant Leukodystrophy, Adult-Onset [RCV000397776] Chr5:126776808 [GRCh38]
Chr5:126112500 [GRCh37]
Chr5:5q23.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q23.2(chr5:126002101-126341594)x3 copy number gain See cases [RCV000511066] Chr5:126002101..126341594 [GRCh37]
Chr5:5q23.2
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q23.2(chr5:126002101-126351612)x3 copy number gain See cases [RCV000511003] Chr5:126002101..126351612 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.232C>T (p.Leu78Phe) single nucleotide variant Inborn genetic diseases [RCV003266551] Chr5:126777740 [GRCh38]
Chr5:126113432 [GRCh37]
Chr5:5q23.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_005573.4(LMNB1):c.1492-51G>A single nucleotide variant not provided [RCV001666904] Chr5:126825937 [GRCh38]
Chr5:126161629 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1719+72del deletion not provided [RCV001666923] Chr5:126832872 [GRCh38]
Chr5:126168564 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.279C>G (p.Leu93=) single nucleotide variant not provided [RCV000916749] Chr5:126777787 [GRCh38]
Chr5:126113479 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.813+187A>G single nucleotide variant not provided [RCV001648774] Chr5:126810537 [GRCh38]
Chr5:126146229 [GRCh37]
Chr5:5q23.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_005573.4(LMNB1):c.1041G>A (p.Ala347=) single nucleotide variant not provided [RCV000927489] Chr5:126819023 [GRCh38]
Chr5:126154715 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.359+7G>A single nucleotide variant not provided [RCV000924293] Chr5:126777874 [GRCh38]
Chr5:126113566 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.642+4_642+7dup duplication not provided [RCV000970701] Chr5:126805697..126805698 [GRCh38]
Chr5:126141389..126141390 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.294C>G (p.Arg98=) single nucleotide variant not provided [RCV000895961] Chr5:126777802 [GRCh38]
Chr5:126113494 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.359+3G>A single nucleotide variant not provided [RCV000828034] Chr5:126777870 [GRCh38]
Chr5:126113562 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity
NM_005573.4(LMNB1):c.651C>T (p.Asn217=) single nucleotide variant not provided [RCV000982145] Chr5:126810188 [GRCh38]
Chr5:126145880 [GRCh37]
Chr5:5q23.2
likely benign
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3
pathogenic
NM_005573.4(LMNB1):c.*284T>G single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154646]|not provided [RCV002512139] Chr5:126836548 [GRCh38]
Chr5:126172240 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_005573.4(LMNB1):c.*631G>A single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155479] Chr5:126836895 [GRCh38]
Chr5:126172587 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*634A>G single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155480] Chr5:126836898 [GRCh38]
Chr5:126172590 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.266C>T (p.Ala89Val) single nucleotide variant Inborn genetic diseases [RCV003239868] Chr5:126777774 [GRCh38]
Chr5:126113466 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1612-236G>C single nucleotide variant not provided [RCV001599096] Chr5:126832458 [GRCh38]
Chr5:126168150 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.360-118A>G single nucleotide variant not provided [RCV001599154] Chr5:126804658 [GRCh38]
Chr5:126140350 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.643-101A>G single nucleotide variant not provided [RCV001636485] Chr5:126810079 [GRCh38]
Chr5:126145771 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1161-57del deletion not provided [RCV001654759] Chr5:126820840 [GRCh38]
Chr5:126156532 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.13A>G (p.Thr5Ala) single nucleotide variant not provided [RCV001547721] Chr5:126777521 [GRCh38]
Chr5:126113213 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.165G>A (p.Thr55=) single nucleotide variant not provided [RCV000961649] Chr5:126777673 [GRCh38]
Chr5:126113365 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1209A>G (p.Ala403=) single nucleotide variant not provided [RCV000907879] Chr5:126820958 [GRCh38]
Chr5:126156650 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.813+8C>G single nucleotide variant not provided [RCV000977400] Chr5:126810358 [GRCh38]
Chr5:126146050 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.-76G>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155358] Chr5:126777433 [GRCh38]
Chr5:126113125 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157048] Chr5:126810312 [GRCh38]
Chr5:126146004 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157049] Chr5:126811812 [GRCh38]
Chr5:126147504 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1364G>T (p.Arg455Leu) single nucleotide variant not provided [RCV001556236] Chr5:126821113 [GRCh38]
Chr5:126156805 [GRCh37]
Chr5:5q23.2
uncertain significance
NR_134485.1(LMNB1-DT):n.10A>G single nucleotide variant not provided [RCV001617696] Chr5:126776477 [GRCh38]
Chr5:126112169 [GRCh37]
Chr5:5q23.2
benign
NR_134485.1(LMNB1-DT):n.50G>C single nucleotide variant not provided [RCV001638418] Chr5:126776437 [GRCh38]
Chr5:126112129 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp) single nucleotide variant Microcephaly 26, primary, autosomal dominant [RCV001292579]|Syndrome with microcephaly as major feature [RCV001254642]|not provided [RCV003148939] Chr5:126777632 [GRCh38]
Chr5:126113324 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157047] Chr5:126810237 [GRCh38]
Chr5:126145929 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157051] Chr5:126818992 [GRCh38]
Chr5:126154684 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.60G>A (p.Thr20=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155359]|not provided [RCV002070906] Chr5:126777568 [GRCh38]
Chr5:126113260 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.*301T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155478] Chr5:126836565 [GRCh38]
Chr5:126172257 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*640G>A single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001155481] Chr5:126836904 [GRCh38]
Chr5:126172596 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*189T>G single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154644] Chr5:126836453 [GRCh38]
Chr5:126172145 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1611+163T>G single nucleotide variant not provided [RCV001670612] Chr5:126826270 [GRCh38]
Chr5:126161962 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.*270T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154645] Chr5:126836534 [GRCh38]
Chr5:126172226 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001198634] Chr5:126804827 [GRCh38]
Chr5:126140519 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.*54A>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001154643]|not provided [RCV002264206] Chr5:126836318 [GRCh38]
Chr5:126172010 [GRCh37]
Chr5:5q23.2
benign|uncertain significance
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001157050] Chr5:126818969 [GRCh38]
Chr5:126154661 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1091T>C (p.Leu364Pro) single nucleotide variant Microcephaly [RCV001252943] Chr5:126819073 [GRCh38]
Chr5:126154765 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.939+2362_1491+560del deletion Microcephaly 26, primary, autosomal dominant [RCV002287475]|Syndrome with microcephaly as major feature [RCV001254644] Chr5:126814259..126823444 [GRCh38]
Chr5:126149951..126159136 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001253966] Chr5:126820927 [GRCh38]
Chr5:126156619 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) single nucleotide variant Inborn genetic diseases [RCV002558702]|Microcephaly 26, primary, autosomal dominant [RCV001292578]|Syndrome with microcephaly as major feature [RCV001254641] Chr5:126777605 [GRCh38]
Chr5:126113297 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly) single nucleotide variant Microcephaly 26, primary, autosomal dominant [RCV001292576]|Syndrome with microcephaly as major feature [RCV001254640] Chr5:126804871 [GRCh38]
Chr5:126140563 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.939+1G>A single nucleotide variant Microcephaly 26, primary, autosomal dominant [RCV001292580]|Syndrome with microcephaly as major feature [RCV001254643] Chr5:126811899 [GRCh38]
Chr5:126147591 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.1161-6A>G single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001253965] Chr5:126820904 [GRCh38]
Chr5:126156596 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro) single nucleotide variant Microcephaly 26, primary, autosomal dominant [RCV001292581] Chr5:126777777 [GRCh38]
Chr5:126113469 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.360-8T>C single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001334424] Chr5:126804768 [GRCh38]
Chr5:126140460 [GRCh37]
Chr5:5q23.2
uncertain significance
NR_134485.1(LMNB1-DT):n.38C>T single nucleotide variant not provided [RCV001539126] Chr5:126776449 [GRCh38]
Chr5:126112141 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.843G>T (p.Met281Ile) single nucleotide variant not provided [RCV001349585] Chr5:126811802 [GRCh38]
Chr5:126147494 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.821A>G (p.Asn274Ser) single nucleotide variant not provided [RCV001341736] Chr5:126811780 [GRCh38]
Chr5:126147472 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_005573.4(LMNB1):c.1387-18C>G single nucleotide variant not provided [RCV001523316] Chr5:126822763 [GRCh38]
Chr5:126158455 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1161-64T>G single nucleotide variant not provided [RCV001669634] Chr5:126820846 [GRCh38]
Chr5:126156538 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1161-51G>A single nucleotide variant not provided [RCV001613522] Chr5:126820859 [GRCh38]
Chr5:126156551 [GRCh37]
Chr5:5q23.2
benign
NC_000005.10:g.126776591C>A single nucleotide variant not provided [RCV001685729] Chr5:126776591 [GRCh38]
Chr5:126112283 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.360-19C>T single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV002501846]|not provided [RCV001522968] Chr5:126804757 [GRCh38]
Chr5:126140449 [GRCh37]
Chr5:5q23.2
benign|likely benign
NR_134485.1(LMNB1-DT):n.26G>T single nucleotide variant not provided [RCV001536933] Chr5:126776461 [GRCh38]
Chr5:126112153 [GRCh37]
Chr5:5q23.2
benign
GRCh37/hg19 5q23.2-23.3(chr5:124997035-128900524)x1 copy number loss See cases [RCV002285063] Chr5:124997035..128900524 [GRCh37]
Chr5:5q23.2-23.3
pathogenic
NM_005573.4(LMNB1):c.1399G>A (p.Gly467Arg) single nucleotide variant not provided [RCV001770757] Chr5:126822793 [GRCh38]
Chr5:126158485 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1393C>T (p.Pro465Ser) single nucleotide variant not provided [RCV001763448] Chr5:126822787 [GRCh38]
Chr5:126158479 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.72del (p.Thr25fs) deletion not provided [RCV001752106] Chr5:126777577 [GRCh38]
Chr5:126113269 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1012A>G (p.Met338Val) single nucleotide variant not provided [RCV001815943] Chr5:126818994 [GRCh38]
Chr5:126154686 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.123C>T (p.Asp41=) single nucleotide variant not provided [RCV002542669]|not specified [RCV001822627] Chr5:126777631 [GRCh38]
Chr5:126113323 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_005573.4(LMNB1):c.112G>A (p.Glu38Lys) single nucleotide variant not provided [RCV001871141] Chr5:126777620 [GRCh38]
Chr5:126113312 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.844A>G (p.Asn282Asp) single nucleotide variant not provided [RCV001874842] Chr5:126811803 [GRCh38]
Chr5:126147495 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.10:g.126508361_126769360del deletion Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001837737] Chr5:126508361..126769360 [GRCh38]
Chr5:5q23.2
pathogenic
NC_000005.9:g.(?_125880657)_(126171956_?)del deletion not provided [RCV001992929] Chr5:125880657..126171956 [GRCh37]
Chr5:5q23.2
pathogenic|uncertain significance
NM_005573.4(LMNB1):c.944G>C (p.Arg315Thr) single nucleotide variant not provided [RCV002020697] Chr5:126818926 [GRCh38]
Chr5:126154618 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1073A>G (p.Asn358Ser) single nucleotide variant not provided [RCV002005820] Chr5:126819055 [GRCh38]
Chr5:126154747 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1138C>T (p.Leu380Phe) single nucleotide variant Microcephaly 26, primary, autosomal dominant [RCV001823637] Chr5:126819120 [GRCh38]
Chr5:126154812 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.547C>A (p.Gln183Lys) single nucleotide variant not provided [RCV001962155] Chr5:126805601 [GRCh38]
Chr5:126141293 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.391G>A (p.Ala131Thr) single nucleotide variant not provided [RCV002038699] Chr5:126804807 [GRCh38]
Chr5:126140499 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1220G>A (p.Arg407His) single nucleotide variant not provided [RCV002036955] Chr5:126820969 [GRCh38]
Chr5:126156661 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1322A>G (p.Asn441Ser) single nucleotide variant not provided [RCV002000276] Chr5:126821071 [GRCh38]
Chr5:126156763 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.9:g.(?_125880657)_(127873296_?)dup duplication Pyridoxine-dependent epilepsy [RCV002016776] Chr5:125880657..127873296 [GRCh37]
Chr5:5q23.2-23.3
uncertain significance
NM_005573.4(LMNB1):c.1456T>G (p.Ser486Ala) single nucleotide variant not provided [RCV001897277] Chr5:126822850 [GRCh38]
Chr5:126158542 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_005573.4(LMNB1):c.313A>C (p.Ile105Leu) single nucleotide variant not provided [RCV002016676] Chr5:126777821 [GRCh38]
Chr5:126113513 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.9:g.(?_126113201)_(126253863_?)dup duplication not provided [RCV001951509] Chr5:126113201..126253863 [GRCh37]
Chr5:5q23.2
pathogenic
NM_005573.4(LMNB1):c.1228C>T (p.Arg410Cys) single nucleotide variant not provided [RCV001999299] Chr5:126820977 [GRCh38]
Chr5:126156669 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1306G>A (p.Ala436Thr) single nucleotide variant not provided [RCV001930182] Chr5:126821055 [GRCh38]
Chr5:126156747 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.292C>T (p.Arg98Cys) single nucleotide variant not provided [RCV001877905] Chr5:126777800 [GRCh38]
Chr5:126113492 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.179T>G (p.Leu60Arg) single nucleotide variant not provided [RCV002014548] Chr5:126777687 [GRCh38]
Chr5:126113379 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1451A>G (p.Tyr484Cys) single nucleotide variant not provided [RCV002029362] Chr5:126822845 [GRCh38]
Chr5:126158537 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1197A>C (p.Thr399=) single nucleotide variant not provided [RCV002124769] Chr5:126820946 [GRCh38]
Chr5:126156638 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.129G>A (p.Leu43=) single nucleotide variant not provided [RCV002187086] Chr5:126777637 [GRCh38]
Chr5:126113329 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.517-11C>G single nucleotide variant not provided [RCV002167701] Chr5:126805560 [GRCh38]
Chr5:126141252 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.36C>T (p.Gly12=) single nucleotide variant not provided [RCV002080041] Chr5:126777544 [GRCh38]
Chr5:126113236 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.360-4C>G single nucleotide variant not provided [RCV002174728] Chr5:126804772 [GRCh38]
Chr5:126140464 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.93G>A (p.Gln31=) single nucleotide variant not provided [RCV002176304] Chr5:126777601 [GRCh38]
Chr5:126113293 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.29G>T (p.Arg10Leu) single nucleotide variant not provided [RCV002216496] Chr5:126777537 [GRCh38]
Chr5:126113229 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1147G>A (p.Gly383Ser) single nucleotide variant not provided [RCV002248228] Chr5:126819129 [GRCh38]
Chr5:126154821 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1236T>G (p.Thr412=) single nucleotide variant not provided [RCV002217147] Chr5:126820985 [GRCh38]
Chr5:126156677 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.288G>C (p.Thr96=) single nucleotide variant not provided [RCV002158703] Chr5:126777796 [GRCh38]
Chr5:126113488 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.360-4C>T single nucleotide variant not provided [RCV002157567] Chr5:126804772 [GRCh38]
Chr5:126140464 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1662G>A (p.Glu554=) single nucleotide variant not provided [RCV003115977] Chr5:126832744 [GRCh38]
Chr5:126168436 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1528C>T (p.Pro510Ser) single nucleotide variant not provided [RCV003121894] Chr5:126826024 [GRCh38]
Chr5:126161716 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.814-1G>T single nucleotide variant Microcephaly 26, primary, autosomal dominant [RCV003153029] Chr5:126811772 [GRCh38]
Chr5:126147464 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_005573.4(LMNB1):c.251C>T (p.Thr84Ile) single nucleotide variant not provided [RCV003131494] Chr5:126777759 [GRCh38]
Chr5:126113451 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.455C>T (p.Ala152Val) single nucleotide variant Microcephaly 26, primary, autosomal dominant [RCV003151946] Chr5:126804871 [GRCh38]
Chr5:126140563 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1491+4A>T single nucleotide variant not provided [RCV003234368] Chr5:126822889 [GRCh38]
Chr5:126158581 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.43G>A (p.Ala15Thr) single nucleotide variant not specified [RCV003231009] Chr5:126777551 [GRCh38]
Chr5:126113243 [GRCh37]
Chr5:5q23.2
uncertain significance
GRCh37/hg19 5q23.2(chr5:126113201-126408992)x1 copy number loss not provided [RCV002263396] Chr5:126113201..126408992 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.151C>T (p.Arg51Cys) single nucleotide variant not provided [RCV002269658] Chr5:126777659 [GRCh38]
Chr5:126113351 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.536C>A (p.Ala179Glu) single nucleotide variant not provided [RCV002263388] Chr5:126805590 [GRCh38]
Chr5:126141282 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002267488] Chr5:126777509 [GRCh38]
Chr5:126113201 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV002466949] Chr5:126811848 [GRCh38]
Chr5:126147540 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1525C>A (p.Pro509Thr) single nucleotide variant not provided [RCV002308746] Chr5:126826021 [GRCh38]
Chr5:126161713 [GRCh37]
Chr5:5q23.2
uncertain significance
GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1 copy number loss not provided [RCV002475732] Chr5:112557391..128106299 [GRCh37]
Chr5:5q22.2-23.3
pathogenic
NM_005573.4(LMNB1):c.1492-16dup duplication not provided [RCV002975177] Chr5:126825971..126825972 [GRCh38]
Chr5:126161663..126161664 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.401A>G (p.Lys134Arg) single nucleotide variant not provided [RCV002907768] Chr5:126804817 [GRCh38]
Chr5:126140509 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1114A>G (p.Met372Val) single nucleotide variant Inborn genetic diseases [RCV002864586]|not provided [RCV003130877] Chr5:126819096 [GRCh38]
Chr5:126154788 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1398G>A (p.Met466Ile) single nucleotide variant Inborn genetic diseases [RCV002732138] Chr5:126822792 [GRCh38]
Chr5:126158484 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.241C>T (p.Leu81Phe) single nucleotide variant not provided [RCV002880673] Chr5:126777749 [GRCh38]
Chr5:126113441 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.154A>G (p.Ser52Gly) single nucleotide variant Inborn genetic diseases [RCV002903989]|not provided [RCV002926743] Chr5:126777662 [GRCh38]
Chr5:126113354 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_005573.4(LMNB1):c.841A>G (p.Met281Val) single nucleotide variant Inborn genetic diseases [RCV002902017] Chr5:126811800 [GRCh38]
Chr5:126147492 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.633G>C (p.Met211Ile) single nucleotide variant Inborn genetic diseases [RCV002704904] Chr5:126805687 [GRCh38]
Chr5:126141379 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1506C>A (p.Asn502Lys) single nucleotide variant not provided [RCV002736663] Chr5:126826002 [GRCh38]
Chr5:126161694 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1531A>C (p.Thr511Pro) single nucleotide variant not provided [RCV002571678] Chr5:126826027 [GRCh38]
Chr5:126161719 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.338A>G (p.Glu113Gly) single nucleotide variant Inborn genetic diseases [RCV002884260] Chr5:126777846 [GRCh38]
Chr5:126113538 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.729G>A (p.Ala243=) single nucleotide variant not provided [RCV002592005] Chr5:126810266 [GRCh38]
Chr5:126145958 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.348G>C (p.Gln116His) single nucleotide variant Inborn genetic diseases [RCV002799009] Chr5:126777856 [GRCh38]
Chr5:126113548 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.849T>G (p.Thr283=) single nucleotide variant not provided [RCV002867180] Chr5:126811808 [GRCh38]
Chr5:126147500 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1305C>T (p.Ser435=) single nucleotide variant not provided [RCV002591921] Chr5:126821054 [GRCh38]
Chr5:126156746 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.15C>T (p.Thr5=) single nucleotide variant not provided [RCV002761016] Chr5:126777523 [GRCh38]
Chr5:126113215 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1563G>A (p.Trp521Ter) single nucleotide variant not provided [RCV002870789] Chr5:126826059 [GRCh38]
Chr5:126161751 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1498G>T (p.Ala500Ser) single nucleotide variant not provided [RCV002596333] Chr5:126825994 [GRCh38]
Chr5:126161686 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1027G>A (p.Glu343Lys) single nucleotide variant not provided [RCV002663600] Chr5:126819009 [GRCh38]
Chr5:126154701 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.207G>A (p.Glu69=) single nucleotide variant not provided [RCV002786273] Chr5:126777715 [GRCh38]
Chr5:126113407 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.482G>C (p.Gly161Ala) single nucleotide variant Inborn genetic diseases [RCV002698584] Chr5:126804898 [GRCh38]
Chr5:126140590 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1343A>G (p.Asp448Gly) single nucleotide variant Inborn genetic diseases [RCV002764236] Chr5:126821092 [GRCh38]
Chr5:126156784 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.37A>C (p.Ser13Arg) single nucleotide variant not provided [RCV002829361] Chr5:126777545 [GRCh38]
Chr5:126113237 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.701G>A (p.Arg234His) single nucleotide variant Inborn genetic diseases [RCV003082701]|not provided [RCV003082700] Chr5:126810238 [GRCh38]
Chr5:126145930 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.516+5G>A single nucleotide variant not provided [RCV002581639] Chr5:126804937 [GRCh38]
Chr5:126140629 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1719+7C>T single nucleotide variant not provided [RCV002716742] Chr5:126832808 [GRCh38]
Chr5:126168500 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.813+4_813+7dup duplication not provided [RCV003026911] Chr5:126810353..126810354 [GRCh38]
Chr5:126146045..126146046 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1676A>C (p.Glu559Ala) single nucleotide variant Inborn genetic diseases [RCV002703155] Chr5:126832758 [GRCh38]
Chr5:126168450 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1504A>T (p.Asn502Tyr) single nucleotide variant Inborn genetic diseases [RCV002668285]|LMNB1-related condition [RCV003420400] Chr5:126826000 [GRCh38]
Chr5:126161692 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.756A>G (p.Gln252=) single nucleotide variant not provided [RCV002646873] Chr5:126810293 [GRCh38]
Chr5:126145985 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.94_96del (p.Glu32del) deletion Inborn genetic diseases [RCV002668478] Chr5:126777600..126777602 [GRCh38]
Chr5:126113292..126113294 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.340C>T (p.His114Tyr) single nucleotide variant Inborn genetic diseases [RCV002934626] Chr5:126777848 [GRCh38]
Chr5:126113540 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1662GGA[5] (p.Glu559_Ala560insGlu) microsatellite not provided [RCV003060411] Chr5:126832741..126832742 [GRCh38]
Chr5:126168433..126168434 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1506C>T (p.Asn502=) single nucleotide variant not provided [RCV002600311] Chr5:126826002 [GRCh38]
Chr5:126161694 [GRCh37]
Chr5:5q23.2
benign
NM_005573.4(LMNB1):c.1025_1028del (p.Lys342fs) deletion not provided [RCV002650054] Chr5:126819006..126819009 [GRCh38]
Chr5:126154698..126154701 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.478G>C (p.Glu160Gln) single nucleotide variant Inborn genetic diseases [RCV002672812] Chr5:126804894 [GRCh38]
Chr5:126140586 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.506A>G (p.Gln169Arg) single nucleotide variant Inborn genetic diseases [RCV002813308]|not specified [RCV003317654] Chr5:126804922 [GRCh38]
Chr5:126140614 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1719+15_1719+31dup duplication not provided [RCV002584251] Chr5:126832808..126832809 [GRCh38]
Chr5:126168500..126168501 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1386+15C>A single nucleotide variant not provided [RCV002604448] Chr5:126821150 [GRCh38]
Chr5:126156842 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.814-3T>C single nucleotide variant not provided [RCV003052745] Chr5:126811770 [GRCh38]
Chr5:126147462 [GRCh37]
Chr5:5q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_005573.4(LMNB1):c.16C>T (p.Pro6Ser) single nucleotide variant Inborn genetic diseases [RCV002723447] Chr5:126777524 [GRCh38]
Chr5:126113216 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_005573.4(LMNB1):c.1161-10T>C single nucleotide variant not provided [RCV002610709] Chr5:126820900 [GRCh38]
Chr5:126156592 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.814-11T>G single nucleotide variant not provided [RCV002589390] Chr5:126811762 [GRCh38]
Chr5:126147454 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1490C>T (p.Thr497Ile) single nucleotide variant not provided [RCV003131493] Chr5:126822884 [GRCh38]
Chr5:126158576 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1721G>A (p.Gly574Glu) single nucleotide variant Inborn genetic diseases [RCV003261001] Chr5:126836224 [GRCh38]
Chr5:126171916 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1216A>C (p.Ser406Arg) single nucleotide variant Inborn genetic diseases [RCV003198675] Chr5:126820965 [GRCh38]
Chr5:126156657 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.164C>G (p.Thr55Arg) single nucleotide variant not provided [RCV003134084] Chr5:126777672 [GRCh38]
Chr5:126113364 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.100GAG[1] (p.Glu35del) microsatellite not provided [RCV003321276] Chr5:126777606..126777608 [GRCh38]
Chr5:126113298..126113300 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.946G>C (p.Ala316Pro) single nucleotide variant not provided [RCV003319774] Chr5:126818928 [GRCh38]
Chr5:126154620 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1251G>T (p.Lys417Asn) single nucleotide variant not provided [RCV003327910] Chr5:126821000 [GRCh38]
Chr5:126156692 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1400G>C (p.Gly467Ala) single nucleotide variant Inborn genetic diseases [RCV003308483]|not provided [RCV003443195] Chr5:126822794 [GRCh38]
Chr5:126158486 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.778T>C (p.Tyr260His) single nucleotide variant not provided [RCV003319808] Chr5:126810315 [GRCh38]
Chr5:126146007 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.682del (p.Leu227_Val228insTer) deletion not provided [RCV003329908] Chr5:126810218 [GRCh38]
Chr5:126145910 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1361T>C (p.Ile454Thr) single nucleotide variant Inborn genetic diseases [RCV003356493]|LMNB1-related condition [RCV003434754] Chr5:126821110 [GRCh38]
Chr5:126156802 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.548A>G (p.Gln183Arg) single nucleotide variant Inborn genetic diseases [RCV003361753] Chr5:126805602 [GRCh38]
Chr5:126141294 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV003333616] Chr5:126777735 [GRCh38]
Chr5:126113427 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1079A>G (p.Tyr360Cys) single nucleotide variant Inborn genetic diseases [RCV003348209] Chr5:126819061 [GRCh38]
Chr5:126154753 [GRCh37]
Chr5:5q23.2
likely benign
NM_005573.4(LMNB1):c.1376C>T (p.Thr459Ile) single nucleotide variant not provided [RCV003443586] Chr5:126821125 [GRCh38]
Chr5:126156817 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1006C>T (p.Arg336Cys) single nucleotide variant not provided [RCV003457441] Chr5:126818988 [GRCh38]
Chr5:126154680 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1160+6G>A single nucleotide variant not specified [RCV003479562] Chr5:126819148 [GRCh38]
Chr5:126154840 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.1039G>C (p.Ala347Pro) single nucleotide variant not provided [RCV003428592] Chr5:126819021 [GRCh38]
Chr5:126154713 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.212G>A (p.Arg71His) single nucleotide variant not provided [RCV003429747] Chr5:126777720 [GRCh38]
Chr5:126113412 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.386A>T (p.Asn129Ile) single nucleotide variant LMNB1-related condition [RCV003414412] Chr5:126804802 [GRCh38]
Chr5:126140494 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.882G>A (p.Met294Ile) single nucleotide variant not provided [RCV003428591] Chr5:126811841 [GRCh38]
Chr5:126147533 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.923C>G (p.Ser308Cys) single nucleotide variant LMNB1-related condition [RCV003402808] Chr5:126811882 [GRCh38]
Chr5:126147574 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.743A>T (p.Glu248Val) single nucleotide variant not provided [RCV003572956] Chr5:126810280 [GRCh38]
Chr5:126145972 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter) single nucleotide variant Adult-onset autosomal dominant demyelinating leukodystrophy [RCV003338060] Chr5:126811875 [GRCh38]
Chr5:126147567 [GRCh37]
Chr5:5q23.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1203
Count of miRNA genes:732
Interacting mature miRNAs:837
Transcripts:ENST00000261366, ENST00000395354, ENST00000460265, ENST00000463908, ENST00000472034, ENST00000492190, ENST00000494185, ENST00000504788, ENST00000512460
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D5S804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375125,085,066 - 125,085,303UniSTSGRCh37
Build 365125,112,965 - 125,113,202RGDNCBI36
Celera5121,041,688 - 121,041,925RGD
Cytogenetic Map5q23.2UniSTS
HuRef5120,274,572 - 120,274,797UniSTS
Marshfield Genetic Map5133.65UniSTS
Marshfield Genetic Map5133.65RGD
deCODE Assembly Map5129.93UniSTS
Stanford-G3 RH Map54835.0UniSTS
Whitehead-RH Map5401.4UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5839.9UniSTS
LMNB1__6401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375126,171,965 - 126,172,857UniSTSGRCh37
Build 365126,199,864 - 126,200,756RGDNCBI36
Celera5122,127,833 - 122,128,725RGD
HuRef5121,363,751 - 121,364,643UniSTS
SGC33978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375126,155,918 - 126,156,067UniSTSGRCh37
Build 365126,183,817 - 126,183,966RGDNCBI36
Celera5122,111,786 - 122,111,935RGD
Cytogenetic Map5q23.2UniSTS
HuRef5121,347,703 - 121,347,852UniSTS
TNG Radiation Hybrid Map558440.0UniSTS
GeneMap99-GB4 RH Map5510.63UniSTS
Whitehead-RH Map5409.5UniSTS
NCBI RH Map5839.9UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 614 725 187 136 1781 122 622 79 599 146 707 659 28 114 161 4
Low 1762 1939 1533 486 169 342 3273 1425 3057 262 739 950 144 1090 2167
Below cutoff 60 324 5 1 1 461 690 67 11 8 2 460 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_177109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC137794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU134245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW512433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000261366   ⟹   ENSP00000261366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,777,136 - 126,837,020 (+)Ensembl
RefSeq Acc Id: ENST00000395354   ⟹   ENSP00000378761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,777,189 - 126,819,234 (+)Ensembl
RefSeq Acc Id: ENST00000460265   ⟹   ENSP00000486528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,776,623 - 126,837,014 (+)Ensembl
RefSeq Acc Id: ENST00000463908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,777,379 - 126,810,255 (+)Ensembl
RefSeq Acc Id: ENST00000472034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,777,161 - 126,818,979 (+)Ensembl
RefSeq Acc Id: ENST00000492190   ⟹   ENSP00000486992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,777,161 - 126,804,914 (+)Ensembl
RefSeq Acc Id: ENST00000494185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,811,713 - 126,821,081 (+)Ensembl
RefSeq Acc Id: ENST00000504788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5126,777,153 - 126,836,571 (+)Ensembl
RefSeq Acc Id: NM_001198557   ⟹   NP_001185486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,777,136 - 126,837,020 (+)NCBI
GRCh375126,112,315 - 126,172,712 (+)ENTREZGENE
HuRef5121,304,338 - 121,364,498 (+)ENTREZGENE
CHM1_15125,545,419 - 125,605,473 (+)NCBI
T2T-CHM13v2.05127,297,092 - 127,357,028 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005573   ⟹   NP_005564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,777,136 - 126,837,020 (+)NCBI
GRCh375126,112,315 - 126,172,712 (+)ENTREZGENE
Build 365126,140,732 - 126,200,608 (+)NCBI Archive
HuRef5121,304,338 - 121,364,498 (+)ENTREZGENE
CHM1_15125,544,889 - 125,605,473 (+)NCBI
T2T-CHM13v2.05127,297,092 - 127,357,028 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134488
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,776,623 - 126,837,020 (+)NCBI
CHM1_15125,544,889 - 125,605,473 (+)NCBI
T2T-CHM13v2.05127,296,579 - 127,357,028 (+)NCBI
Sequence:
RefSeq Acc Id: NR_177109
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,777,136 - 126,837,020 (+)NCBI
T2T-CHM13v2.05127,297,092 - 127,357,028 (+)NCBI
RefSeq Acc Id: XM_047417173   ⟹   XP_047273129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,777,817 - 126,837,020 (+)NCBI
RefSeq Acc Id: XM_047417174   ⟹   XP_047273130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,777,817 - 126,837,020 (+)NCBI
RefSeq Acc Id: XM_047417175   ⟹   XP_047273131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,787,308 - 126,837,020 (+)NCBI
RefSeq Acc Id: XM_054352579   ⟹   XP_054208554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05127,298,419 - 127,357,028 (+)NCBI
RefSeq Acc Id: XM_054352580   ⟹   XP_054208555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05127,307,246 - 127,357,028 (+)NCBI
RefSeq Acc Id: NP_005564   ⟸   NM_005573
- Peptide Label: isoform 1
- UniProtKB: Q3SYN7 (UniProtKB/Swiss-Prot),   B2R6J6 (UniProtKB/Swiss-Prot),   Q96EI6 (UniProtKB/Swiss-Prot),   P20700 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185486   ⟸   NM_001198557
- Peptide Label: isoform 2
- UniProtKB: B4DZT3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000486992   ⟸   ENST00000492190
RefSeq Acc Id: ENSP00000261366   ⟸   ENST00000261366
RefSeq Acc Id: ENSP00000378761   ⟸   ENST00000395354
RefSeq Acc Id: ENSP00000486528   ⟸   ENST00000460265
RefSeq Acc Id: XP_047273129   ⟸   XM_047417173
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047273130   ⟸   XM_047417174
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047273131   ⟸   XM_047417175
- Peptide Label: isoform X3
- UniProtKB: B4DZT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208554   ⟸   XM_054352579
- Peptide Label: isoform X3
- UniProtKB: B4DZT3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054208555   ⟸   XM_054352580
- Peptide Label: isoform X3
- UniProtKB: B4DZT3 (UniProtKB/TrEMBL)
Protein Domains
IF rod   LTD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20700-F1-model_v2 AlphaFold P20700 1-586 view protein structure

Promoters
RGD ID:6803321
Promoter ID:HG_KWN:50959
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000250956,   OTTHUMT00000259190,   OTTHUMT00000259191,   UC003KUC.1,   UC010JDB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365126,140,206 - 126,141,312 (+)MPROMDB
RGD ID:6803316
Promoter ID:HG_KWN:50960
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259192
Position:
Human AssemblyChrPosition (strand)Source
Build 365126,168,194 - 126,168,694 (+)MPROMDB
RGD ID:6803317
Promoter ID:HG_KWN:50961
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000259193
Position:
Human AssemblyChrPosition (strand)Source
Build 365126,174,346 - 126,175,682 (+)MPROMDB
RGD ID:6803320
Promoter ID:HG_KWN:50962
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000259194
Position:
Human AssemblyChrPosition (strand)Source
Build 365126,182,404 - 126,182,904 (+)MPROMDB
RGD ID:6870422
Promoter ID:EPDNEW_H8376
Type:initiation region
Name:LMNB1_1
Description:lamin B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,777,145 - 126,777,205EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6637 AgrOrtholog
COSMIC LMNB1 COSMIC
Ensembl Genes ENSG00000113368 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261366 ENTREZGENE
  ENST00000261366.10 UniProtKB/Swiss-Prot
  ENST00000395354.1 UniProtKB/TrEMBL
  ENST00000460265 ENTREZGENE
  ENST00000460265.5 UniProtKB/TrEMBL
  ENST00000492190.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113368 GTEx
HGNC ID HGNC:6637 ENTREZGENE
Human Proteome Map LMNB1 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lamin_tail_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lamin_tail_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4001 UniProtKB/Swiss-Prot
NCBI Gene 4001 ENTREZGENE
OMIM 150340 OMIM
PANTHER LAMIN DM0-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMIN-B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30403 PharmGKB
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF74853 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SFE5_HUMAN UniProtKB/TrEMBL
  A0A0D9SFY5_HUMAN UniProtKB/TrEMBL
  B2R6J6 ENTREZGENE
  B4DZT3 ENTREZGENE, UniProtKB/TrEMBL
  E9PBF6_HUMAN UniProtKB/TrEMBL
  L0R6K0_HUMAN UniProtKB/TrEMBL
  LMNB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3SYN7 ENTREZGENE
  Q6DC98_HUMAN UniProtKB/TrEMBL
  Q96EI6 ENTREZGENE
UniProt Secondary B2R6J6 UniProtKB/Swiss-Prot
  Q3SYN7 UniProtKB/Swiss-Prot
  Q96EI6 UniProtKB/Swiss-Prot