RGD:28880331 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:28880331 -  Homo sapiens

RGD ID: 28880331
RS ID: rs753207004
ClinVar ID: CV903170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,443,100
GRCh38 X 71,223,250
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_245t2:c.-102G>A
NM_000166.6:c.-102G>A
LRG_245:g.13039G>A
NG_008357.1:g.13039G>A
More... 		03/30/2018 5 prime utr variant uncertain significance Charcot-Marie-Tooth Neuropathy X Type 1; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; CMTX 1; X-linked Charcot-Marie-Tooth disease type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_000166
Location:5UTRS;EXON

Gene Symbol:GJB1
Accession:XM_011530907
Location:5UTRS;INTRON

Gene Symbol:GJB1
Accession:NM_001097642
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167300 CLINVAR
dbSNP (RS) rs753207004 CLINVAR
MedGen C0393808 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 302800 CLINVAR
  304040 CLINVAR