RGD:405146543 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 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
Advanced Search (OLGA)

Variant: RGD:405146543 -  Homo sapiens

RGD ID: 405146543
ClinVar ID: CV3152039
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYOT  PKD2L2-DT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 137,206,483
GRCh38 5 137,870,794
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_201t1:c.143C>G
NM_001300911.2:c.-120-83C>G
NM_001135940.2:c.-197+269C>G
NM_006790.3:c.143C>G
More... 		11/07/2022 intron variant uncertain significance Autosomal dominant spheroid body myopathy; Limb-girdle muscular dystrophy, type 1A; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3152039Humanmyofibrillar myopathy 3  IAGP 8554872ClinVar Annotator: match by term: Myofibrillar myopathy 3ClinVarPMID:28492532
Gene Symbol:MYOT
Accession:NM_001300911
Location:5UTRS;INTRON

Gene Symbol:MYOT
Accession:NM_001135940
Location:5UTRS;INTRON

Gene Symbol:MYOT
Accession:NM_006790
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCREQRFSASSTLSSHITMSSSAFPASPQQHAGSN
PGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNYQQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQD
LERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQ
DAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGA
YACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQ
DNTGRVTLLIKDVNKKDAGWYTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPE
GEFQRLAAQSGLYESEEL*

Gene Symbol:MYOT
Accession:XM_017010061
Location:INTRON

Gene Symbol:PKD2L2-DT
Accession:XR_007058950
Location:INTRON;NON-CODING

Gene Symbol:PKD2L2-DT
Accession:XR_948815
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003856010 CLINVAR
MedGen C3714934 CLINVAR
NCBI Gene MYOT CLINVAR
  PKD2L2-DT CLINVAR
OMIM 159000 CLINVAR
  604103 CLINVAR
  609200 CLINVAR