RGD:11551044 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:11551044 -  Homo sapiens

RGD ID: 11551044
RS ID: rs62620173
ClinVar ID: CV253334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127816392  POMT1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 134,379,600
GRCh38 9 131,504,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008896.1:g.6312T>G
NC_000009.12:g.131504213T>G
NC_000009.11:g.134379600T>G
NM_001353199.2:c.-123+1140T>G
More... 		04/27/2017 5 prime utr variant|intron variant benign|likely benign AllHighlyPenetrant; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT1
Accession:NM_001353195
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_007171
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:XM_011518143
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374695
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353198
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:XM_011518140
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001077365
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353193
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374690
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353196
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374692
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001136113
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:XM_047422641
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:XM_011518141
Location:5UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001411024
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:XM_011518145
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001353197
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:XM_011518142
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001353200
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001077366
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001374691
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001353194
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001353199
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:XM_047422640
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001136114
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001374689
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001374693
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NR_148399
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148392
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148395
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148397
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_001746160
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061226
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XM_047422642
Location:INTRON

Gene Symbol:POMT1
Accession:NR_148391
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061229
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061230
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148400
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148393
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148396
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061227
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061228
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148394
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148398
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252534 CLINVAR
  RCV001169103 CLINVAR
  RCV001698662 CLINVAR
dbSNP (RS) rs62620173 CLINVAR
MedGen C1836373 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene POMT1 CLINVAR
OMIM 607423 CLINVAR
  609308 CLINVAR