RGD:15132312 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:15132312 -  Homo sapiens

RGD ID: 15132312
RS ID: rs533466569
ClinVar ID: CV776424
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMC6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 76,113,432
GRCh38 17 78,117,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127198.5:c.2199-4G>A
NM_001375354.1:c.2199-4G>A
NM_007267.7:c.2199-4G>A
NG_007879.1:g.20057G>A
More... 		11/04/2020 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMC6
Accession:XM_047435267
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435274
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435261
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435251
Location:INTRON

Gene Symbol:TMC6
Accession:NM_001127198
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435255
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435250
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435258
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435260
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435277
Location:INTRON

Gene Symbol:TMC6
Accession:NM_001321185
Location:INTRON

Gene Symbol:TMC6
Accession:NM_001375354
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435271
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435273
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435257
Location:INTRON

Gene Symbol:TMC6
Accession:NM_001374593
Location:INTRON

Gene Symbol:TMC6
Accession:NM_001375353
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435268
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435253
Location:INTRON

Gene Symbol:TMC6
Accession:NM_001374594
Location:INTRON

Gene Symbol:TMC6
Accession:XM_011524257
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435276
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435264
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435272
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435270
Location:INTRON

Gene Symbol:TMC6
Accession:XM_024450556
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435265
Location:INTRON

Gene Symbol:TMC6
Accession:NM_007267
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435269
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435275
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435263
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435254
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435278
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435252
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435266
Location:INTRON

Gene Symbol:TMC6
Accession:XM_011524256
Location:INTRON

Gene Symbol:TMC6
Accession:NM_001374596
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435259
Location:INTRON

Gene Symbol:TMC6
Accession:XM_047435256
Location:INTRON

Gene Symbol:TMC6
Accession:NR_168288
Location:INTRON;NON-CODING

Gene Symbol:TMC6
Accession:NR_168291
Location:INTRON;NON-CODING

Gene Symbol:TMC6
Accession:NR_168290
Location:INTRON;NON-CODING

Gene Symbol:TMC6
Accession:NR_168289
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000942376 CLINVAR
dbSNP (RS) rs533466569 CLINVAR
MedGen C0014522 CLINVAR
NCBI Gene TMC6 CLINVAR
OMIM 605828 CLINVAR