RGD:11643986 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:11643986 -  Homo sapiens

RGD ID: 11643986
RS ID: rs766433603
ClinVar ID: CV273808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYSF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 71,753,481
GRCh38 2 71,526,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008694.1:g.77729G>A
NC_000002.12:g.71526351G>A
NC_000002.11:g.71753481G>A
NM_001130979.2:c.1273+5G>A
More... 		05/01/2019 intron variant pathogenic|likely pathogenic|uncertain significance Dysferlinopathy; Limb-girdle muscular dystrophy, type 2B; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; Muscular dystrophy, limb-girdle, type 3; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DYSF
Accession:NM_001130979
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130983
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130984
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYSF
Accession:NM_003494
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130455
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130986
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130985
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130976
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130982
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130977
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130981
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130980
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130987
Location:INTRON

Gene Symbol:DYSF
Accession:NM_001130978
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:18853459   PMID:25574751   PMID:25741868   PMID:26467025   PMID:27290639   PMID:27647186   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000675165 CLINVAR
  RCV000726343 CLINVAR
  RCV001048102 CLINVAR
  RCV003463775 CLINVAR
dbSNP (RS) rs766433603 CLINVAR
MedGen C1850889 CLINVAR
  C2931687 CLINVAR
  C3661900 CLINVAR
  C4551973 CLINVAR
NCBI Gene DYSF CLINVAR
OMIM 253601 CLINVAR
  254130 CLINVAR
  603009 CLINVAR