RGD:28888694 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:28888694 -  Homo sapiens

RGD ID: 28888694
RS ID: rs555844506
ClinVar ID: CV862423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMNA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 156,107,617
GRCh38 1 156,137,826
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005572.3:c.*62G>A
LRG_254t1:c.*62G>A
NM_001257374.3:c.1362+83G>A
NM_001282626.2:c.1698+83G>A
More... 		01/13/2018 3 prime utr variant|intron variant uncertain significance Benign scapuloperoneal muscular dystrophy with cardiomyopathy; CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Cardiomyopathy, Familial Idiopathic; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; Charcot-Marie-Tooth Neuropathy Type 2B1; CMT 2B1; Congenital muscular dystrophy, LMNA-related; CRANIOMANDIBULAR DERMATODYSOSTOSIS; Dilated cardiomyopathy with conduction defect; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; Familial partial lipodystrophy 2; Fetal hypokinesia sequence due to restrictive dermopathy; HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY; Humeroperoneal neuromuscular disease, (formerly); Hyperkeratosis-contracture syndrome; Idiopathic dilated cardiomyopathy; Lamin A-related Congenital Muscular Dystrophy; Limb-girdle muscular dystrophy, type 1B; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; Lipodystrophy, type A, associated with mandibuloacral dysplasia; LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal; MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B; Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Partial lipodystrophy, Dunnigan; Progerin-producing progeroid laminopathy; Restrictive dermopathy; Restrictive dermopathy, lethal; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Scapuloperoneal syndrome, X-linked (formerly)

Variant Details
Variant Transcripts
Gene Symbol:LMNA
Accession:NM_001282625
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001282624
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001406984
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001406992
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001407002
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001406998
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001407003
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_005572
Location:3UTRS;EXON

Gene Symbol:LMNA
Accession:NM_001407001
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406993
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406989
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406986
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406988
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170708
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406999
Location:INTRON

Gene Symbol:LMNA
Accession:NM_170707
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406991
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406994
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406987
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406985
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001282626
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001407000
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406983
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406995
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406997
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001257374
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406990
Location:INTRON

Gene Symbol:LMNA
Accession:NM_001406996
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001099170 CLINVAR
  RCV001099171 CLINVAR
  RCV001099172 CLINVAR
  RCV001099173 CLINVAR
  RCV001099174 CLINVAR
  RCV001101161 CLINVAR
  RCV001101162 CLINVAR
  RCV001101163 CLINVAR
  RCV001101164 CLINVAR
  RCV001101165 CLINVAR
dbSNP (RS) rs555844506 CLINVAR
MedGen C0033300 CLINVAR
  C0406585 CLINVAR
  C0410189 CLINVAR
  C0410190 CLINVAR
  C1449563 CLINVAR
  C1720860 CLINVAR
  C1854154 CLINVAR
  C2750785 CLINVAR
  C5399785 CLINVAR
  CN239184 CLINVAR
NCBI Gene LMNA CLINVAR
OMIM 115200 CLINVAR
  150330 CLINVAR
  151660 CLINVAR
  176670 CLINVAR
  181350 CLINVAR
  248370 CLINVAR
  605588 CLINVAR
  613205 CLINVAR
SNOMED CT 111508004 CLINVAR
  238870004 CLINVAR
  400128006 CLINVAR