RGD:8609581 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:8609581 -  Homo sapiens

RGD ID: 8609581
RS ID: rs190935632
ClinVar ID: CV55876
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 179,654,695
GRCh38 2 178,789,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_391:g.45835G>C
NG_011618.3:g.45835G>C
NC_000002.12:g.178789968C>G
NC_000002.11:g.179654695C>G
More... 		10/08/2019 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters adult|all ages|childhood 1-9 / 100 000|<1 / 1 000 000 AllHighlyPenetrant; Autosomal recessive limb-girdle muscular dystrophy type 2J; Cardiomyopathies; CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY; Distal myopathy Markesbery-Griggs type; EDSTROM MYOPATHY; Hereditary myopathy with early respiratory failure; Limb-girdle muscular dystrophy, type 2J; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; none provided; Salih Myopathy; Tibial muscular dystrophy, tardive; Udd Distal Myopathy; UDD Myopathy
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:TTN
Accession:NM_133378
Location:INTRON

Gene Symbol:TTN
Accession:NM_133379
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453097
Location:INTRON

Gene Symbol:TTN
Accession:NM_133437
Location:INTRON

Gene Symbol:TTN
Accession:NM_001256850
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453095
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445665
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004820
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004822
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004823
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453099
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004819
Location:INTRON

Gene Symbol:TTN
Accession:NM_001267550
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445660
Location:INTRON

Gene Symbol:TTN
Accession:NM_003319
Location:INTRON

Gene Symbol:TTN
Accession:NM_133432
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445668
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453100
Location:INTRON

Gene Symbol:TTN
Accession:XM_024453098
Location:INTRON

Gene Symbol:TTN
Accession:XM_017004821
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445663
Location:INTRON

Gene Symbol:TTN
Accession:XM_047445661
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000039981 CLINVAR
  RCV000227722 CLINVAR
  RCV000267712 CLINVAR
  RCV000308895 CLINVAR
  RCV000326312 CLINVAR
  RCV000359959 CLINVAR
  RCV000365866 CLINVAR
  RCV000770156 CLINVAR
  RCV001528383 CLINVAR
dbSNP (RS) rs190935632 CLINVAR
MedGen C0878544 CLINVAR
  C1837342 CLINVAR
  C1838244 CLINVAR
  C1858763 CLINVAR
  C1863599 CLINVAR
  C2673677 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TTN CLINVAR
OMIM 188840 CLINVAR
  600334 CLINVAR
  603689 CLINVAR
  604145 CLINVAR
  608807 CLINVAR
  611705 CLINVAR
SNOMED CT 85898001 CLINVAR