rs2148347843 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: rs2148347843 -  Homo sapiens

RGD ID: 152130359
RS ID: rs2148347843
ClinVar ID: CV1582241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 32,472,770
GRCh38 X 32,454,653
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004010.3:c.3234+8_3234+9insC
NM_000109.4:c.3579+8_3579+9insC
NM_004009.3:c.3591+8_3591+9insC
NM_004006.3:c.3603+8_3603+9insC
More... 		07/26/2021 intron variant likely benign Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DMD
Accession:NM_004022
Location:INTRON

Gene Symbol:DMD
Accession:NM_004010
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029328
Location:INTRON

Gene Symbol:DMD
Accession:NM_004012
Location:INTRON

Gene Symbol:DMD
Accession:NM_004021
Location:INTRON

Gene Symbol:DMD
Accession:NM_004017
Location:INTRON

Gene Symbol:DMD
Accession:NM_004016
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724473
Location:INTRON

Gene Symbol:DMD
Accession:NM_004023
Location:INTRON

Gene Symbol:DMD
Accession:NM_004013
Location:INTRON

Gene Symbol:DMD
Accession:NM_004015
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004009
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029329
Location:INTRON

Gene Symbol:DMD
Accession:NM_004011
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:NM_000109
Location:INTRON

Gene Symbol:DMD
Accession:NM_004006
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724474
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724470
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545468
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724475
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004018
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724468
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Gene Symbol:DMD
Accession:NM_004014
Location:INTRON

Gene Symbol:DMD
Accession:NM_004020
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545467
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002099402 CLINVAR
dbSNP (RS) rs2148347843 CLINVAR
MedGen C0013264 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300377 CLINVAR
  310200 CLINVAR
SNOMED CT 76670001 CLINVAR