RGD:11586473 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:11586473 -  Homo sapiens

RGD ID: 11586473
RS ID: rs72629796
ClinVar ID: CV286073
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTN  TTN-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 179,391,075
GRCh38 2 178,526,348
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
NM_001267550.2:c.*664G>T
NM_133378.4:c.*664G>T
LRG_391:g.309455G>T
NG_011618.3:g.309455G>T
More... 		05/23/2021 3 prime utr variant benign|likely benign adult|childhood 1-9 / 100 000|<1 / 1 000 000 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

Variant Details
Variant Transcripts
Gene Symbol:TTN
Accession:NM_003319
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:NM_133437
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_024453100
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_047445661
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:NM_133432
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:NM_001256850
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:NM_133378
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_047445660
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_024453098
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_017004821
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_017004822
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_017004819
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_024453099
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_024453095
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_047445665
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:NM_001267550
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_047445668
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_017004823
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_024453097
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_017004820
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:XM_047445663
Location:3UTRS;EXON

Gene Symbol:TTN
Accession:NM_133379
Location:INTRON

Gene Symbol:TTN-AS1
Accession:NR_038272
Location:INTRON;NON-CODING

Gene Symbol:TTN-AS1
Accession:NR_038271
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000288260 CLINVAR
  RCV000314803 CLINVAR
  RCV000367155 CLINVAR
  RCV000399516 CLINVAR
  RCV000401470 CLINVAR
  RCV001618586 CLINVAR
dbSNP (RS) rs72629796 CLINVAR
MedGen C1837342 CLINVAR
  C1838244 CLINVAR
  C1858763 CLINVAR
  C1863599 CLINVAR
  C2673677 CLINVAR
  C3661900 CLINVAR
NCBI Gene TTN CLINVAR
  TTN-AS1 CLINVAR
OMIM 188840 CLINVAR
  600334 CLINVAR
  603689 CLINVAR
  604145 CLINVAR
  608807 CLINVAR
  611705 CLINVAR